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dbVar

Database of genomic structural variation

nsv7097478

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:73,212

Description:
See descriptions for individual calls in download files
Publication(s):Henry et al. 2020

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: 270 SVs from 43 studies. See in: genome view

Remapped(Score: Perfect):124,823,962-124,897,173

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7097478	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	124,823,962	124,897,173
nsv7097478	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	124,464,016	124,537,227

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18786741	duplication	Multiple	Multiple	Familial melanoma; MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10; CMM10; Melanoma, cutaneous malignant, susceptibility to, 10; POT1 Tumor Predisposition; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV003119588.3, VCV002426150.3
nssv18786743	deletion	Multiple	Multiple	Familial melanoma; MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10; CMM10; Melanoma, cutaneous malignant, susceptibility to, 10; POT1 Tumor Predisposition; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV003119590.3, VCV002426152.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18786741	Remapped	Perfect	NC_000007.14:g.(?_ 124823962)_(124897 173_?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	124,823,962	124,897,173
nssv18786743	Remapped	Perfect	NC_000007.14:g.(?_ 124823962)_(124897 173_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	124,823,962	124,897,173
nssv18786741	Submitted genomic		NC_000007.13:g.(?_ 124464016)_(124537 227_?)dup	GRCh37 (hg19)		NC_000007.13	Chr7	124,464,016	124,537,227
nssv18786743	Submitted genomic		NC_000007.13:g.(?_ 124464016)_(124537 227_?)del	GRCh37 (hg19)		NC_000007.13	Chr7	124,464,016	124,537,227

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
nssv18786741	GRCh37: NC_000007.13:g.(?_124464016)_(124537227_?)dup	duplication	germline	Familial melanoma; MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10; CMM10; Melanoma, cutaneous malignant, susceptibility to, 10; POT1 Tumor Predisposition; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV003119588.3, VCV002426150.3
nssv18786743	GRCh37: NC_000007.13:g.(?_124464016)_(124537227_?)del	deletion	germline	Familial melanoma; MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10; CMM10; Melanoma, cutaneous malignant, susceptibility to, 10; POT1 Tumor Predisposition; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV003119590.3, VCV002426152.3

No genotype data were submitted for this variant

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