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dbVar

Database of genomic structural variation

nsv6314362

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;17)(p14.3;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: 70 SVs from 19 studies. See in: genome view

Remapped(Score: Perfect):54,915,485-54,915,485

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314362	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	54,915,485	54,915,485	-
nsv6314362	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	54,915,492	54,915,492	+
nsv6314362	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	70,251,774	70,251,774	+
nsv6314362	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	70,251,778	70,251,778	-
nsv6314362	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	54,949,512	54,949,512	-
nsv6314362	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	54,949,519	54,949,519	+
nsv6314362	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	68,247,915	68,247,915	+
nsv6314362	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	68,247,919	68,247,919	-

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975282	interchromosomal translocation	Multiple	Multiple	Abnormality of the tongue; Abnormality of the tongue; Concave nasal ridge; Concave nasal ridge; Delayed eruption of primary teeth; Delayed eruption of primary teeth; Depressed nasal bridge; Depressed nasal bridge; EPICANTHUS; Epicanthus; Epicanthus; Esotropia; Esotropia; Facial hyperostosis; Facial hyperostosis; Gingival overgrowth; Gingival overgrowth; HYPERTELORISM; Hirsutism; Hirsutism; Hypertelorism; Hypertelorism; Long upper lip; Long upper lip; Macrotia; Macrotia; Malocclusion, Angle Class III; Mandibular prognathia; Mandibular prognathia; PROGNATHISM, MANDIBULAR; Prominent nose; Prominent nose; Short columella; Short columella; Thickened skin; Thickened skin	Likely pathogenic	ClinVar	RCV000258547.2, VCV000267799.1
nssv17975281	interchromosomal translocation	Multiple	Multiple	Abnormality of the tongue; Abnormality of the tongue; Concave nasal ridge; Concave nasal ridge; Delayed eruption of primary teeth; Delayed eruption of primary teeth; Depressed nasal bridge; Depressed nasal bridge; EPICANTHUS; Epicanthus; Epicanthus; Esotropia; Esotropia; Facial hyperostosis; Facial hyperostosis; Gingival overgrowth; Gingival overgrowth; HYPERTELORISM; Hirsutism; Hirsutism; Hypertelorism; Hypertelorism; Long upper lip; Long upper lip; Macrotia; Macrotia; Malocclusion, Angle Class III; Mandibular prognathia; Mandibular prognathia; PROGNATHISM, MANDIBULAR; Prominent nose; Prominent nose; Short columella; Short columella; Thickened skin; Thickened skin	Likely pathogenic	ClinVar	RCV000258547.2, VCV000267799.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17975282	Remapped	Perfect	GRCh38.p12	First Pass	NC_000003.12	Chr3	54,915,485	54,915,485	-
nssv17975281	Remapped	Perfect	GRCh38.p12	First Pass	NC_000003.12	Chr3	54,915,492	54,915,492	+
nssv17975282	Remapped	Perfect	GRCh38.p12	First Pass	NC_000017.11	Chr17	70,251,774	70,251,774	+
nssv17975281	Remapped	Perfect	GRCh38.p12	First Pass	NC_000017.11	Chr17	70,251,778	70,251,778	-
nssv17975282	Submitted genomic		GRCh37 (hg19)		NC_000003.11	Chr3	54,949,512	54,949,512	-
nssv17975281	Submitted genomic		GRCh37 (hg19)		NC_000003.11	Chr3	54,949,519	54,949,519	+
nssv17975282	Submitted genomic		GRCh37 (hg19)		NC_000017.10	Chr17	68,247,915	68,247,915	+
nssv17975281	Submitted genomic		GRCh37 (hg19)		NC_000017.10	Chr17	68,247,919	68,247,919	-

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
nssv17975282	interchromosomal translocation	de novo	Abnormality of the tongue; Abnormality of the tongue; Concave nasal ridge; Concave nasal ridge; Delayed eruption of primary teeth; Delayed eruption of primary teeth; Depressed nasal bridge; Depressed nasal bridge; EPICANTHUS; Epicanthus; Epicanthus; Esotropia; Esotropia; Facial hyperostosis; Facial hyperostosis; Gingival overgrowth; Gingival overgrowth; HYPERTELORISM; Hirsutism; Hirsutism; Hypertelorism; Hypertelorism; Long upper lip; Long upper lip; Macrotia; Macrotia; Malocclusion, Angle Class III; Mandibular prognathia; Mandibular prognathia; PROGNATHISM, MANDIBULAR; Prominent nose; Prominent nose; Short columella; Short columella; Thickened skin; Thickened skin	Likely pathogenic	ClinVar	RCV000258547.2, VCV000267799.1
nssv17975281	interchromosomal translocation	de novo	Abnormality of the tongue; Abnormality of the tongue; Concave nasal ridge; Concave nasal ridge; Delayed eruption of primary teeth; Delayed eruption of primary teeth; Depressed nasal bridge; Depressed nasal bridge; EPICANTHUS; Epicanthus; Epicanthus; Esotropia; Esotropia; Facial hyperostosis; Facial hyperostosis; Gingival overgrowth; Gingival overgrowth; HYPERTELORISM; Hirsutism; Hirsutism; Hypertelorism; Hypertelorism; Long upper lip; Long upper lip; Macrotia; Macrotia; Malocclusion, Angle Class III; Mandibular prognathia; Mandibular prognathia; PROGNATHISM, MANDIBULAR; Prominent nose; Prominent nose; Short columella; Short columella; Thickened skin; Thickened skin	Likely pathogenic	ClinVar	RCV000258547.2, VCV000267799.1

No genotype data were submitted for this variant

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