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dbVar

Database of genomic structural variation

nsv6636443

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:177,805

Description:GRCh37/hg19 8p21.2(chr8:23502588-23680392)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: 514 SVs from 48 studies. See in: genome view

Remapped(Score: Perfect):23,645,075-23,822,879

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6636443	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	23,645,075	23,822,879
nsv6636443	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	23,502,588	23,680,392

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18329462	copy number loss	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV002472396.1, VCV001807590.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18329462	Remapped	Perfect	NC_000008.11:g.(?_ 23645075)_(2382287 9_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	23,645,075	23,822,879
nssv18329462	Submitted genomic		NC_000008.10:g.(?_ 23502588)_(2368039 2_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	23,502,588	23,680,392

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
nssv18329462	GRCh37: NC_000008.10:g.(?_23502588)_(23680392_?)del	copy number loss	unknown	not provided	Uncertain significance	ClinVar	RCV002472396.1, VCV001807590.1	1

No genotype data were submitted for this variant

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