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dbVar

Database of genomic structural variation

nsv6637460

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:37,494

Description:GRCh37/hg19 15q26.3(chr15:99722842-99760335)x1 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: 259 SVs from 46 studies. See in: genome view

Remapped(Score: Perfect):99,182,637-99,220,130

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6637460	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	99,182,637	99,220,130
nsv6637460	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	99,722,842	99,760,335

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18330999	copy number loss	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV002472860.1, VCV001808054.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18330999	Remapped	Perfect	NC_000015.10:g.(?_ 99182637)_(9922013 0_?)del	GRCh38.p12	First Pass	NC_000015.10	Chr15	99,182,637	99,220,130
nssv18330999	Submitted genomic		NC_000015.9:g.(?_9 9722842)_(99760335 _?)del	GRCh37 (hg19)		NC_000015.9	Chr15	99,722,842	99,760,335

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	Copy number
nssv18330999	GRCh37: NC_000015.9:g.(?_99722842)_(99760335_?)del	copy number loss	unknown	not provided	Uncertain significance	ClinVar	RCV002472860.1, VCV001808054.1	1

No genotype data were submitted for this variant

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