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dbVar

Database of genomic structural variation

nsv6310733

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:236,388

Description:
See descriptions for individual calls in download files
Publication(s):Jen et al. 2001

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: 643 SVs from 57 studies. See in: genome view

Remapped(Score: Perfect):160,120,886-160,357,273

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6310733	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	160,120,886	160,357,273
nsv6310733	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	160,090,676	160,327,063

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17973780	duplication	Multiple	Multiple	Familial Hemiplegic Migraine; Familial hemiplegic migraine; Migraine, familial hemiplegic	Uncertain significance	ClinVar	RCV002037093.2, VCV001345184.2
nssv17973781	duplication	Multiple	Multiple	PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER); PBD12A; Peroxisome biogenesis disorder 12A; Zellweger syndrome	Uncertain significance	ClinVar	RCV002037094.2, VCV001345184.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17973780	Remapped	Perfect	NC_000001.11:g.(?_ 160120886)_(160357 273_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	160,120,886	160,357,273
nssv17973781	Remapped	Perfect	NC_000001.11:g.(?_ 160120886)_(160357 273_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	160,120,886	160,357,273
nssv17973780	Submitted genomic		NC_000001.10:g.(?_ 160090676)_(160327 063_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	160,090,676	160,327,063
nssv17973781	Submitted genomic		NC_000001.10:g.(?_ 160090676)_(160327 063_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	160,090,676	160,327,063

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17973780	GRCh37: NC_000001.10:g.(?_160090676)_(160327063_?)dup	duplication	germline	Familial Hemiplegic Migraine; Familial hemiplegic migraine; Migraine, familial hemiplegic	Uncertain significance	ClinVar	RCV002037093.2, VCV001345184.2
nssv17973781	GRCh37: NC_000001.10:g.(?_160090676)_(160327063_?)dup	duplication	germline	PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER); PBD12A; Peroxisome biogenesis disorder 12A; Zellweger syndrome	Uncertain significance	ClinVar	RCV002037094.2, VCV001345184.2

No genotype data were submitted for this variant

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