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dbVar

Database of genomic structural variation

nsv6314609

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Description:
46;XY;t(3;18)(q13.3;q21.3)dn AND multiple conditions
Publication(s):Manickam et al. 2021, Michelson et al. 2011, 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: 85 SVs from 18 studies. See in: genome view

Remapped(Score: Perfect):118,553,073-118,553,073

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314609	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	118,553,073	118,553,073	+
nsv6314609	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	118,553,076	118,553,076	+
nsv6314609	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	55,241,921	55,241,921	+
nsv6314609	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	55,241,927	55,241,927	+
nsv6314609	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	118,271,920	118,271,920	+
nsv6314609	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	118,271,923	118,271,923	+
nsv6314609	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	52,909,152	52,909,152	+
nsv6314609	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	52,909,158	52,909,158	+

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17968613	interchromosomal translocation	Multiple	Multiple	Abnormal facial shape; Abnormal facial shape; Global developmental delay; Global developmental delay; Hypoplasia of the frontal lobes; Hypoplasia of the frontal lobes; Hypotonia; Muscular hypotonia	Pathogenic	ClinVar	RCV000258520.1, VCV000267956.1
nssv17968614	interchromosomal translocation	Multiple	Multiple	Abnormal facial shape; Abnormal facial shape; Global developmental delay; Global developmental delay; Hypoplasia of the frontal lobes; Hypoplasia of the frontal lobes; Hypotonia; Muscular hypotonia	Pathogenic	ClinVar	RCV000258520.1, VCV000267956.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17968613	Remapped	Perfect	GRCh38.p12	First Pass	NC_000003.12	Chr3	118,553,073	118,553,073	+
nssv17968614	Remapped	Perfect	GRCh38.p12	First Pass	NC_000003.12	Chr3	118,553,076	118,553,076	+
nssv17968614	Remapped	Perfect	GRCh38.p12	First Pass	NC_000018.10	Chr18	55,241,921	55,241,921	+
nssv17968613	Remapped	Perfect	GRCh38.p12	First Pass	NC_000018.10	Chr18	55,241,927	55,241,927	+
nssv17968613	Submitted genomic		GRCh37 (hg19)		NC_000003.11	Chr3	118,271,920	118,271,920	+
nssv17968614	Submitted genomic		GRCh37 (hg19)		NC_000003.11	Chr3	118,271,923	118,271,923	+
nssv17968614	Submitted genomic		GRCh37 (hg19)		NC_000018.9	Chr18	52,909,152	52,909,152	+
nssv17968613	Submitted genomic		GRCh37 (hg19)		NC_000018.9	Chr18	52,909,158	52,909,158	+

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
nssv17968613	interchromosomal translocation	de novo	Abnormal facial shape; Abnormal facial shape; Global developmental delay; Global developmental delay; Hypoplasia of the frontal lobes; Hypoplasia of the frontal lobes; Hypotonia; Muscular hypotonia	Pathogenic	ClinVar	RCV000258520.1, VCV000267956.1
nssv17968614	interchromosomal translocation	de novo	Abnormal facial shape; Abnormal facial shape; Global developmental delay; Global developmental delay; Hypoplasia of the frontal lobes; Hypoplasia of the frontal lobes; Hypotonia; Muscular hypotonia	Pathogenic	ClinVar	RCV000258520.1, VCV000267956.1

No genotype data were submitted for this variant

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