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dbVar

Database of genomic structural variation

nsv4347155

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:5,287,872

Description:GRCh37/hg19 2p16.1-15(chr2:57445335-62733206) 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: 12443 SVs from 110 studies. See in: genome view

Remapped(Score: Perfect):57,218,200-62,506,071

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4347155	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	57,218,200	62,506,071
nsv4347155	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	57,445,335	62,733,206

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15606037	copy number loss	Multiple	Multiple	not provided	Likely pathogenic	ClinVar	RCV000767552.1, VCV000625544.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15606037	Remapped	Perfect	NC_000002.12:g.(?_ 57218200)_(6250607 1_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	57,218,200	62,506,071
nssv15606037	Submitted genomic		NC_000002.11:g.(?_ 57445335)_(6273320 6_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	57,445,335	62,733,206

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
nssv15606037	GRCh37: NC_000002.11:g.(?_57445335)_(62733206_?)del	copy number loss	de novo	not provided	Likely pathogenic	ClinVar	RCV000767552.1, VCV000625544.1

No genotype data were submitted for this variant

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