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dbVar

Database of genomic structural variation

nsv3903706

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:5,532,900

Description:GRCh37/hg19 14q24.1-24.2(chr14:68035240-73568130)x1 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: 13183 SVs from 115 studies. See in: genome view

Remapped(Score: Perfect):67,568,523-73,101,422

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3903706	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	67,568,523	73,101,422
nsv3903706	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	68,035,240	73,568,130

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15151835	copy number loss	Multiple	Multiple	See cases	Likely pathogenic	ClinVar	RCV000512344.2, VCV000443425.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15151835	Remapped	Perfect	NC_000014.9:g.(?_6 7568523)_(73101422 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	67,568,523	73,101,422
nssv15151835	Submitted genomic		NC_000014.8:g.(?_6 8035240)_(73568130 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	68,035,240	73,568,130

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
nssv15151835	GRCh37: NC_000014.8:g.(?_68035240)_(73568130_?)del	copy number loss	not provided	See cases	Likely pathogenic	ClinVar	RCV000512344.2, VCV000443425.2	1

No genotype data were submitted for this variant

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