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dbVar

Database of genomic structural variation

nsv6637792

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:1,383,171

Description:GRCh37/hg19 16p13.11(chr16:14925995-16309165)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: 5179 SVs from 122 studies. See in: genome view

Remapped(Score: Perfect):14,832,138-16,215,308

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6637792	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	14,832,138	16,215,308
nsv6637792	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187607.1	Chr16\|NT_1 87607.1	531,831	1,873,305
nsv6637792	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	14,925,995	16,309,165

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18329979	copy number gain	Multiple	Multiple	not provided	Likely pathogenic	ClinVar	RCV002473711.1, VCV001808394.1	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18329979	Remapped	Good	NT_187607.1:g.(?_5 31831)_(1873305_?) dup	GRCh38.p12	Second Pass	NT_187607.1	Chr16\|NT_1 87607.1	531,831	1,873,305
nssv18329979	Remapped	Perfect	NC_000016.10:g.(?_ 14832138)_(1621530 8_?)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	14,832,138	16,215,308
nssv18329979	Submitted genomic		NC_000016.9:g.(?_1 4925995)_(16309165 _?)dup	GRCh37 (hg19)		NC_000016.9	Chr16	14,925,995	16,309,165

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
nssv18329979	GRCh37: NC_000016.9:g.(?_14925995)_(16309165_?)dup	copy number gain	unknown	not provided	Likely pathogenic	ClinVar	RCV002473711.1, VCV001808394.1	3

No genotype data were submitted for this variant

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