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dbVar

Database of genomic structural variation

nsv4675107

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:12,123,975

Description:GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1 AND Deletion syndrome

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: 32104 SVs from 126 studies. See in: genome view

Remapped(Score: Perfect):84,317,179-96,441,153

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4675107	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	84,317,179	96,441,153
nsv4675107	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	84,783,523	96,907,490

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16206456	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV001004048.1, VCV000813277.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16206456	Remapped	Perfect	NC_000014.9:g.8431 7179_96441153del	GRCh38.p12	First Pass	NC_000014.9	Chr14	84,317,179	96,441,153
nssv16206456	Submitted genomic		NC_000014.8:g.8478 3523_96907490del	GRCh37 (hg19)		NC_000014.8	Chr14	84,783,523	96,907,490

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
nssv16206456	GRCh37: NC_000014.8:g.84783523_96907490del	copy number loss	germline	See cases	Pathogenic	ClinVar	RCV001004048.1, VCV000813277.1	1

No genotype data were submitted for this variant

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