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dbVar

Database of genomic structural variation

nsv6314406

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:complex chromosomal rearrangement
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:4
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Description:
46;XY;t(2;14)(p22;q24.3)dn AND multiple conditions
Publication(s):Redin et al. 2016

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 128 SVs from 21 studies. See in: genome view

Remapped(Score: Perfect):38,118,356-38,118,356

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314406	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	38,118,356	38,118,356	+
nsv6314406	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	38,118,359	38,118,359	-
nsv6314406	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	70,739,456	70,739,456	+
nsv6314406	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	70,739,498	70,739,498	+
nsv6314406	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	78,670,191	78,670,191	-
nsv6314406	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	78,670,195	78,670,195	+
nsv6314406	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	81,624,408	81,624,408	-
nsv6314406	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	81,624,552	81,624,552	-
nsv6314406	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	38,345,498	38,345,498	+
nsv6314406	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	38,345,501	38,345,501	-
nsv6314406	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	71,206,173	71,206,173	+
nsv6314406	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	71,206,215	71,206,215	+
nsv6314406	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	79,136,534	79,136,534	-
nsv6314406	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	79,136,538	79,136,538	+
nsv6314406	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	82,090,752	82,090,752	-
nsv6314406	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	82,090,896	82,090,896	-

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975417	interchromosomal translocation	Multiple	Multiple	Abnormality of cardiovascular system morphology; Abnormality of cardiovascular system morphology; Aorta coarctation; Atrial septal defect; Atrial septal defect; Atrial septal defect; COARCTATION OF AORTA; Cerebral ischemia; Cerebral ischemia; Coarctation of aorta; Coarctation of aorta; Double inlet left ventricle; Double inlet left ventricle; Hemiparesis; Hemiparesis; Hypertonia; Hypertonia; Hypoplastic aortic arch; Hypoplastic aortic arch; Hypotonia; Interatrial communication; Lower limb muscle weakness; Lower limb muscle weakness; Muscular hypotonia; PATENT DUCTUS ARTERIOSUS 1; PDA1; Patent ductus arteriosus; Patent ductus arteriosus; Patent ductus arteriosus; Transposition of the great arteries; Transposition of the great arteries	Likely pathogenic	ClinVar	RCV000258593.1, VCV000268037.1
nssv17975419	interchromosomal translocation	Multiple	Multiple	Abnormality of cardiovascular system morphology; Abnormality of cardiovascular system morphology; Aorta coarctation; Atrial septal defect; Atrial septal defect; Atrial septal defect; COARCTATION OF AORTA; Cerebral ischemia; Cerebral ischemia; Coarctation of aorta; Coarctation of aorta; Double inlet left ventricle; Double inlet left ventricle; Hemiparesis; Hemiparesis; Hypertonia; Hypertonia; Hypoplastic aortic arch; Hypoplastic aortic arch; Hypotonia; Interatrial communication; Lower limb muscle weakness; Lower limb muscle weakness; Muscular hypotonia; PATENT DUCTUS ARTERIOSUS 1; PDA1; Patent ductus arteriosus; Patent ductus arteriosus; Patent ductus arteriosus; Transposition of the great arteries; Transposition of the great arteries	Likely pathogenic	ClinVar	RCV000258593.1, VCV000268037.1
nssv17975418	intrachromosomal translocation	Multiple	Multiple	Abnormality of cardiovascular system morphology; Abnormality of cardiovascular system morphology; Aorta coarctation; Atrial septal defect; Atrial septal defect; Atrial septal defect; COARCTATION OF AORTA; Cerebral ischemia; Cerebral ischemia; Coarctation of aorta; Coarctation of aorta; Double inlet left ventricle; Double inlet left ventricle; Hemiparesis; Hemiparesis; Hypertonia; Hypertonia; Hypoplastic aortic arch; Hypoplastic aortic arch; Hypotonia; Interatrial communication; Lower limb muscle weakness; Lower limb muscle weakness; Muscular hypotonia; PATENT DUCTUS ARTERIOSUS 1; PDA1; Patent ductus arteriosus; Patent ductus arteriosus; Patent ductus arteriosus; Transposition of the great arteries; Transposition of the great arteries	Likely pathogenic	ClinVar	RCV000258593.1, VCV000268037.1
nssv17975416	intrachromosomal translocation	Multiple	Multiple	Abnormality of cardiovascular system morphology; Abnormality of cardiovascular system morphology; Aorta coarctation; Atrial septal defect; Atrial septal defect; Atrial septal defect; COARCTATION OF AORTA; Cerebral ischemia; Cerebral ischemia; Coarctation of aorta; Coarctation of aorta; Double inlet left ventricle; Double inlet left ventricle; Hemiparesis; Hemiparesis; Hypertonia; Hypertonia; Hypoplastic aortic arch; Hypoplastic aortic arch; Hypotonia; Interatrial communication; Lower limb muscle weakness; Lower limb muscle weakness; Muscular hypotonia; PATENT DUCTUS ARTERIOSUS 1; PDA1; Patent ductus arteriosus; Patent ductus arteriosus; Patent ductus arteriosus; Transposition of the great arteries; Transposition of the great arteries	Likely pathogenic	ClinVar	RCV000258593.1, VCV000268037.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17975417	Remapped	Perfect	GRCh38.p12	First Pass	NC_000002.12	Chr2	38,118,356	38,118,356	+
nssv17975419	Remapped	Perfect	GRCh38.p12	First Pass	NC_000002.12	Chr2	38,118,359	38,118,359	-
nssv17975418	Remapped	Perfect	GRCh38.p12	First Pass	NC_000014.9	Chr14	70,739,456	70,739,456	+
nssv17975416	Remapped	Perfect	GRCh38.p12	First Pass	NC_000014.9	Chr14	70,739,498	70,739,498	+
nssv17975419	Remapped	Perfect	GRCh38.p12	First Pass	NC_000014.9	Chr14	78,670,191	78,670,191	-
nssv17975417	Remapped	Perfect	GRCh38.p12	First Pass	NC_000014.9	Chr14	78,670,195	78,670,195	+
nssv17975418	Remapped	Perfect	GRCh38.p12	First Pass	NC_000014.9	Chr14	81,624,408	81,624,408	-
nssv17975416	Remapped	Perfect	GRCh38.p12	First Pass	NC_000014.9	Chr14	81,624,552	81,624,552	-
nssv17975417	Submitted genomic		GRCh37 (hg19)		NC_000002.11	Chr2	38,345,498	38,345,498	+
nssv17975419	Submitted genomic		GRCh37 (hg19)		NC_000002.11	Chr2	38,345,501	38,345,501	-
nssv17975418	Submitted genomic		GRCh37 (hg19)		NC_000014.8	Chr14	71,206,173	71,206,173	+
nssv17975416	Submitted genomic		GRCh37 (hg19)		NC_000014.8	Chr14	71,206,215	71,206,215	+
nssv17975419	Submitted genomic		GRCh37 (hg19)		NC_000014.8	Chr14	79,136,534	79,136,534	-
nssv17975417	Submitted genomic		GRCh37 (hg19)		NC_000014.8	Chr14	79,136,538	79,136,538	+
nssv17975418	Submitted genomic		GRCh37 (hg19)		NC_000014.8	Chr14	82,090,752	82,090,752	-
nssv17975416	Submitted genomic		GRCh37 (hg19)		NC_000014.8	Chr14	82,090,896	82,090,896	-

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975417	interchromosomal translocation	de novo	Abnormality of cardiovascular system morphology; Abnormality of cardiovascular system morphology; Aorta coarctation; Atrial septal defect; Atrial septal defect; Atrial septal defect; COARCTATION OF AORTA; Cerebral ischemia; Cerebral ischemia; Coarctation of aorta; Coarctation of aorta; Double inlet left ventricle; Double inlet left ventricle; Hemiparesis; Hemiparesis; Hypertonia; Hypertonia; Hypoplastic aortic arch; Hypoplastic aortic arch; Hypotonia; Interatrial communication; Lower limb muscle weakness; Lower limb muscle weakness; Muscular hypotonia; PATENT DUCTUS ARTERIOSUS 1; PDA1; Patent ductus arteriosus; Patent ductus arteriosus; Patent ductus arteriosus; Transposition of the great arteries; Transposition of the great arteries	Likely pathogenic	ClinVar	RCV000258593.1, VCV000268037.1
nssv17975419	interchromosomal translocation	de novo	Abnormality of cardiovascular system morphology; Abnormality of cardiovascular system morphology; Aorta coarctation; Atrial septal defect; Atrial septal defect; Atrial septal defect; COARCTATION OF AORTA; Cerebral ischemia; Cerebral ischemia; Coarctation of aorta; Coarctation of aorta; Double inlet left ventricle; Double inlet left ventricle; Hemiparesis; Hemiparesis; Hypertonia; Hypertonia; Hypoplastic aortic arch; Hypoplastic aortic arch; Hypotonia; Interatrial communication; Lower limb muscle weakness; Lower limb muscle weakness; Muscular hypotonia; PATENT DUCTUS ARTERIOSUS 1; PDA1; Patent ductus arteriosus; Patent ductus arteriosus; Patent ductus arteriosus; Transposition of the great arteries; Transposition of the great arteries	Likely pathogenic	ClinVar	RCV000258593.1, VCV000268037.1
nssv17975418	intrachromosomal translocation	de novo	Abnormality of cardiovascular system morphology; Abnormality of cardiovascular system morphology; Aorta coarctation; Atrial septal defect; Atrial septal defect; Atrial septal defect; COARCTATION OF AORTA; Cerebral ischemia; Cerebral ischemia; Coarctation of aorta; Coarctation of aorta; Double inlet left ventricle; Double inlet left ventricle; Hemiparesis; Hemiparesis; Hypertonia; Hypertonia; Hypoplastic aortic arch; Hypoplastic aortic arch; Hypotonia; Interatrial communication; Lower limb muscle weakness; Lower limb muscle weakness; Muscular hypotonia; PATENT DUCTUS ARTERIOSUS 1; PDA1; Patent ductus arteriosus; Patent ductus arteriosus; Patent ductus arteriosus; Transposition of the great arteries; Transposition of the great arteries	Likely pathogenic	ClinVar	RCV000258593.1, VCV000268037.1
nssv17975416	intrachromosomal translocation	de novo	Abnormality of cardiovascular system morphology; Abnormality of cardiovascular system morphology; Aorta coarctation; Atrial septal defect; Atrial septal defect; Atrial septal defect; COARCTATION OF AORTA; Cerebral ischemia; Cerebral ischemia; Coarctation of aorta; Coarctation of aorta; Double inlet left ventricle; Double inlet left ventricle; Hemiparesis; Hemiparesis; Hypertonia; Hypertonia; Hypoplastic aortic arch; Hypoplastic aortic arch; Hypotonia; Interatrial communication; Lower limb muscle weakness; Lower limb muscle weakness; Muscular hypotonia; PATENT DUCTUS ARTERIOSUS 1; PDA1; Patent ductus arteriosus; Patent ductus arteriosus; Patent ductus arteriosus; Transposition of the great arteries; Transposition of the great arteries	Likely pathogenic	ClinVar	RCV000258593.1, VCV000268037.1

No genotype data were submitted for this variant

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