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dbVar

Database of genomic structural variation

nsv4674275

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:840,215

Description:GRCh37/hg19 3p22.2(chr3:36948416-37788630)x3 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: 1813 SVs from 76 studies. See in: genome view

Remapped(Score: Perfect):36,906,925-37,747,139

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4674275	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	36,906,925	37,747,139
nsv4674275	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	36,948,416	37,788,630

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16206643	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001005424.1, VCV000814434.1	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16206643	Remapped	Perfect	NC_000003.12:g.(?_ 36906925)_(3774713 9_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	36,906,925	37,747,139
nssv16206643	Submitted genomic		NC_000003.11:g.(?_ 36948416)_(3778863 0_?)dup	GRCh37 (hg19)		NC_000003.11	Chr3	36,948,416	37,788,630

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
nssv16206643	GRCh37: NC_000003.11:g.(?_36948416)_(37788630_?)dup	copy number gain	germline	not provided	Uncertain significance	ClinVar	RCV001005424.1, VCV000814434.1	3

No genotype data were submitted for this variant

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