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dbVar

Database of genomic structural variation

nsv6309413

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:64,176

Description:
See descriptions for individual calls in download files
Publication(s):Bird et al. 1998

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: 205 SVs from 41 studies. See in: genome view

Remapped(Score: Perfect):32,576,358-32,640,533

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6309413	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	32,576,358	32,640,533
nsv6309413	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	32,729,292	32,793,467

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17972275	deletion	Multiple	Multiple	Charcot-Marie-Tooth disease type 4	Pathogenic	ClinVar	RCV001972536.2, VCV001457034.2
nssv18788095	duplication	Multiple	Multiple	Charcot-Marie-Tooth disease type 4	Uncertain significance	ClinVar	RCV003123116.2, VCV002427282.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17972275	Remapped	Perfect	NC_000012.12:g.(?_ 32576358)_(3264053 3_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	32,576,358	32,640,533
nssv18788095	Remapped	Perfect	NC_000012.12:g.(?_ 32576358)_(3264053 3_?)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	32,576,358	32,640,533
nssv17972275	Submitted genomic		NC_000012.11:g.(?_ 32729292)_(3279346 7_?)del	GRCh37 (hg19)		NC_000012.11	Chr12	32,729,292	32,793,467
nssv18788095	Submitted genomic		NC_000012.11:g.(?_ 32729292)_(3279346 7_?)dup	GRCh37 (hg19)		NC_000012.11	Chr12	32,729,292	32,793,467

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
nssv17972275	GRCh37: NC_000012.11:g.(?_32729292)_(32793467_?)del	deletion	germline	Charcot-Marie-Tooth disease type 4	Pathogenic	ClinVar	RCV001972536.2, VCV001457034.2
nssv18788095	GRCh37: NC_000012.11:g.(?_32729292)_(32793467_?)dup	duplication	germline	Charcot-Marie-Tooth disease type 4	Uncertain significance	ClinVar	RCV003123116.2, VCV002427282.2

No genotype data were submitted for this variant

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