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dbVar

Database of genomic structural variation

nsv7097168

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:12,514

Description:NC_000006.11:g.(?_10402705)_(10415218_?)dup AND not provided

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: 96 SVs from 23 studies. See in: genome view

Remapped(Score: Perfect):10,402,472-10,414,985

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7097168	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	10,402,472	10,414,985
nsv7097168	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	10,402,705	10,415,218

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18789593	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV003113237.2, VCV002424655.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18789593	Remapped	Perfect	NC_000006.12:g.(?_ 10402472)_(1041498 5_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	10,402,472	10,414,985
nssv18789593	Submitted genomic		NC_000006.11:g.(?_ 10402705)_(1041521 8_?)dup	GRCh37 (hg19)		NC_000006.11	Chr6	10,402,705	10,415,218

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
nssv18789593	GRCh37: NC_000006.11:g.(?_10402705)_(10415218_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV003113237.2, VCV002424655.2

No genotype data were submitted for this variant

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