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dbVar

Database of genomic structural variation

nsv6314575

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(7;12)(q21.2;q14.2) AND Slurred speech
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: 79 SVs from 27 studies. See in: genome view

Remapped(Score: Perfect):93,900,370-93,900,370

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314575	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	93,900,370	93,900,370	+
nsv6314575	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	93,900,378	93,900,378	-
nsv6314575	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	62,284,018	62,284,018	-
nsv6314575	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	62,284,019	62,284,019	+
nsv6314575	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	93,529,682	93,529,682	+
nsv6314575	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	93,529,690	93,529,690	-
nsv6314575	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	62,677,799	62,677,799	-
nsv6314575	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	62,677,800	62,677,800	+

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975823	interchromosomal translocation	Multiple	Multiple	Slurred speech; Slurred speech	Likely pathogenic	ClinVar	RCV000258712.1, VCV000267978.1
nssv17975825	interchromosomal translocation	Multiple	Multiple	Slurred speech; Slurred speech	Likely pathogenic	ClinVar	RCV000258712.1, VCV000267978.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17975823	Remapped	Perfect	GRCh38.p12	First Pass	NC_000007.14	Chr7	93,900,370	93,900,370	+
nssv17975825	Remapped	Perfect	GRCh38.p12	First Pass	NC_000007.14	Chr7	93,900,378	93,900,378	-
nssv17975825	Remapped	Perfect	GRCh38.p12	First Pass	NC_000012.12	Chr12	62,284,018	62,284,018	-
nssv17975823	Remapped	Perfect	GRCh38.p12	First Pass	NC_000012.12	Chr12	62,284,019	62,284,019	+
nssv17975823	Submitted genomic		GRCh37 (hg19)		NC_000007.13	Chr7	93,529,682	93,529,682	+
nssv17975825	Submitted genomic		GRCh37 (hg19)		NC_000007.13	Chr7	93,529,690	93,529,690	-
nssv17975825	Submitted genomic		GRCh37 (hg19)		NC_000012.11	Chr12	62,677,799	62,677,799	-
nssv17975823	Submitted genomic		GRCh37 (hg19)		NC_000012.11	Chr12	62,677,800	62,677,800	+

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
nssv17975823	interchromosomal translocation	unknown	Slurred speech; Slurred speech	Likely pathogenic	ClinVar	RCV000258712.1, VCV000267978.1
nssv17975825	interchromosomal translocation	unknown	Slurred speech; Slurred speech	Likely pathogenic	ClinVar	RCV000258712.1, VCV000267978.1

No genotype data were submitted for this variant

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