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dbVar

Database of genomic structural variation

nsv4728566

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:8,685,885

Description:GRCh37/hg19 1p31.1-22.2(chr1:80804502-89490384)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: 20068 SVs from 116 studies. See in: genome view

Remapped(Score: Perfect):80,338,817-89,024,701

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4728566	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	80,338,817	89,024,701
nsv4728566	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	80,804,502	89,490,384

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16255170	copy number gain	Multiple	Multiple	not provided	Likely pathogenic	ClinVar	RCV001259073.1, VCV000979897.1	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16255170	Remapped	Perfect	NC_000001.11:g.(?_ 80338817)_(8902470 1_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	80,338,817	89,024,701
nssv16255170	Submitted genomic		NC_000001.10:g.(?_ 80804502)_(8949038 4_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	80,804,502	89,490,384

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
nssv16255170	GRCh37: NC_000001.10:g.(?_80804502)_(89490384_?)dup	copy number gain	germline	not provided	Likely pathogenic	ClinVar	RCV001259073.1, VCV000979897.1	3

No genotype data were submitted for this variant

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