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dbVar

Database of genomic structural variation

nsv3905609

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:160,655

Description:GRCh37/hg19 16q23.1(chr16:78159696-78320350)x0 AND See cases

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: 850 SVs from 72 studies. See in: genome view

Remapped(Score: Perfect):78,125,799-78,286,453

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3905609	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	78,125,799	78,286,453
nsv3905609	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	78,159,696	78,320,350

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15141676	copy number loss	Multiple	Multiple	See cases	Likely pathogenic	ClinVar	RCV000510313.2, VCV000443551.2	0

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15141676	Remapped	Perfect	NC_000016.10:g.(?_ 78125799)_(7828645 3_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	78,125,799	78,286,453
nssv15141676	Submitted genomic		NC_000016.9:g.(?_7 8159696)_(78320350 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	78,159,696	78,320,350

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
nssv15141676	GRCh37: NC_000016.9:g.(?_78159696)_(78320350_?)del	copy number loss	biparental	See cases	Likely pathogenic	ClinVar	RCV000510313.2, VCV000443551.2	0

No genotype data were submitted for this variant

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