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dbVar

Database of genomic structural variation

nsv6112757

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:7,107,933

Description:GRCh37/hg19 2q35-36.3(chr2:220056891-227164817)x1 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: 17456 SVs from 116 studies. See in: genome view

Remapped(Score: Perfect):219,192,169-226,300,101

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6112757	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	219,192,169	226,300,101
nsv6112757	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	220,056,891	227,164,817

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17650001	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001537914.4, VCV001180532.4	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17650001	Remapped	Perfect	NC_000002.12:g.219 192169_226300101de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	219,192,169	226,300,101
nssv17650001	Submitted genomic		NC_000002.11:g.220 056891_227164817de l	GRCh37 (hg19)		NC_000002.11	Chr2	220,056,891	227,164,817

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
nssv17650001	GRCh37: NC_000002.11:g.220056891_227164817del	copy number loss	unknown	not provided	Pathogenic	ClinVar	RCV001537914.4, VCV001180532.4	1

No genotype data were submitted for this variant

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