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dbVar

Database of genomic structural variation

nsv6637386

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:1,167,246

Description:GRCh37/hg19 15q13.1-13.2(chr15:29212947-30369944)x3 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: 3154 SVs from 109 studies. See in: genome view

Remapped(Score: Perfect):28,920,744-30,077,741

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6637386	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	28,920,744	30,077,741
nsv6637386	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_2	Second Pass	NT_187660.1	Chr15\|NT_1 87660.1	1,195,699	2,362,944
nsv6637386	Remapped	Good	GRCh38.p12	PATCHES	Second Pass	NW_011332701.1	Chr15\|NW_0 11332701.1	1,083,215	2,250,460
nsv6637386	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	29,212,947	30,369,944

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18330063	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV002473795.1, VCV001808478.1	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18330063	Remapped	Good	NT_187660.1:g.(?_1 195699)_(2362944_? )dup	GRCh38.p12	Second Pass	NT_187660.1	Chr15\|NT_1 87660.1	1,195,699	2,362,944
nssv18330063	Remapped	Good	NW_011332701.1:g.( ?_1083215)_(225046 0_?)dup	GRCh38.p12	Second Pass	NW_011332701.1	Chr15\|NW_0 11332701.1	1,083,215	2,250,460
nssv18330063	Remapped	Perfect	NC_000015.10:g.(?_ 28920744)_(3007774 1_?)dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	28,920,744	30,077,741
nssv18330063	Submitted genomic		NC_000015.9:g.(?_2 9212947)_(30369944 _?)dup	GRCh37 (hg19)		NC_000015.9	Chr15	29,212,947	30,369,944

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
nssv18330063	GRCh37: NC_000015.9:g.(?_29212947)_(30369944_?)dup	copy number gain	unknown	not provided	Uncertain significance	ClinVar	RCV002473795.1, VCV001808478.1	3

No genotype data were submitted for this variant

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