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dbVar

Database of genomic structural variation

nsv7097560

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:3,373,218

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: 8389 SVs from 111 studies. See in: genome view

Remapped(Score: Good):106,571,996-109,945,213

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7097560	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	106,571,996	109,945,213
nsv7097560	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	107,019,871	110,266,416

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18790924	deletion	Multiple	Multiple	Charcot-Marie-Tooth disease type 4	Pathogenic	ClinVar	RCV003116781.2, VCV002425984.2
nssv18790925	deletion	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV003116782.2, VCV002425984.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18790924	Remapped	Good	NC_000006.12:g.(?_ 106571996)_(109945 213_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	106,571,996	109,945,213
nssv18790925	Remapped	Good	NC_000006.12:g.(?_ 106571996)_(109945 213_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	106,571,996	109,945,213
nssv18790924	Submitted genomic		NC_000006.11:g.(?_ 107019871)_(110266 416_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	107,019,871	110,266,416
nssv18790925	Submitted genomic		NC_000006.11:g.(?_ 107019871)_(110266 416_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	107,019,871	110,266,416

No validation data were submitted for this variant

Clinical Assertions There exist variant calls with the same type and copy number with different clinical interpretation.

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18790924	GRCh37: NC_000006.11:g.(?_107019871)_(110266416_?)del	deletion	germline	Charcot-Marie-Tooth disease type 4	Pathogenic	ClinVar	RCV003116781.2, VCV002425984.2
nssv18790925	GRCh37: NC_000006.11:g.(?_107019871)_(110266416_?)del	deletion	germline	not provided	Uncertain significance	ClinVar	RCV003116782.2, VCV002425984.2

No genotype data were submitted for this variant

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