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dbVar

Database of genomic structural variation

nsv6637281

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:2,116,660

Description:GRCh37/hg19 15q13.2-13.3(chr15:31073669-32915593)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: 5709 SVs from 125 studies. See in: genome view

Remapped(Score: Perfect):30,781,466-32,623,392

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6637281	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	30,781,466	32,623,392
nsv6637281	Remapped	Pass	GRCh38.p12	ALT_REF_LOCI_2	Second Pass	NT_187660.1	Chr15\|NT_1 87660.1	2,721,316	4,837,975
nsv6637281	Remapped	Pass	GRCh38.p12	PATCHES	Second Pass	NW_011332701.1	Chr15\|NW_0 11332701.1	2,954,719	4,675,523
nsv6637281	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	31,073,669	32,915,593

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18329904	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV002473636.1, VCV001808319.1	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18329904	Remapped	Pass	NT_187660.1:g.(?_2 721316)_(4837975_? )dup	GRCh38.p12	Second Pass	NT_187660.1	Chr15\|NT_1 87660.1	2,721,316	4,837,975
nssv18329904	Remapped	Pass	NW_011332701.1:g.( ?_2954719)_(467552 3_?)dup	GRCh38.p12	Second Pass	NW_011332701.1	Chr15\|NW_0 11332701.1	2,954,719	4,675,523
nssv18329904	Remapped	Perfect	NC_000015.10:g.(?_ 30781466)_(3262339 2_?)dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	30,781,466	32,623,392
nssv18329904	Submitted genomic		NC_000015.9:g.(?_3 1073669)_(32915593 _?)dup	GRCh37 (hg19)		NC_000015.9	Chr15	31,073,669	32,915,593

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
nssv18329904	GRCh37: NC_000015.9:g.(?_31073669)_(32915593_?)dup	copy number gain	unknown	not provided	Uncertain significance	ClinVar	RCV002473636.1, VCV001808319.1	3

No genotype data were submitted for this variant

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