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dbVar

Database of genomic structural variation

nsv4454698

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:100,621

Description:GRCh37/hg19 1p34.2(chr1:40657779-40758399)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: 330 SVs from 51 studies. See in: genome view

Remapped(Score: Perfect):40,192,107-40,292,727

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4454698	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	40,192,107	40,292,727
nsv4454698	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	40,657,779	40,758,399

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15774739	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV000846319.2, VCV000685611.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15774739	Remapped	Perfect	NC_000001.11:g.(?_ 40192107)_(4029272 7_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	40,192,107	40,292,727
nssv15774739	Submitted genomic		NC_000001.10:g.(?_ 40657779)_(4075839 9_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	40,657,779	40,758,399

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
nssv15774739	GRCh37: NC_000001.10:g.(?_40657779)_(40758399_?)dup	copy number gain	unknown	not provided	Uncertain significance	ClinVar	RCV000846319.2, VCV000685611.2	3

No genotype data were submitted for this variant

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