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dbVar

Database of genomic structural variation

nsv6636617

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:4,455,680

Description:GRCh37/hg19 8p23.1(chr8:8093066-12548732)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: 16050 SVs from 130 studies. See in: genome view

Remapped(Score: Perfect):8,235,544-12,691,223

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6636617	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	8,235,544	12,691,223
nsv6636617	Remapped	Pass	GRCh38.p12	PATCHES	Second Pass	NW_018654717.1	Chr8\|NW_01 8654717.1	996,517	5,112,321
nsv6636617	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	8,093,066	12,548,732

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18330749	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV002472610.1, VCV001807804.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18330749	Remapped	Pass	NW_018654717.1:g.( ?_996517)_(5112321 _?)del	GRCh38.p12	Second Pass	NW_018654717.1	Chr8\|NW_01 8654717.1	996,517	5,112,321
nssv18330749	Remapped	Perfect	NC_000008.11:g.(?_ 8235544)_(12691223 _?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	8,235,544	12,691,223
nssv18330749	Submitted genomic		NC_000008.10:g.(?_ 8093066)_(12548732 _?)del	GRCh37 (hg19)		NC_000008.10	Chr8	8,093,066	12,548,732

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
nssv18330749	GRCh37: NC_000008.10:g.(?_8093066)_(12548732_?)del	copy number loss	unknown	not provided	Pathogenic	ClinVar	RCV002472610.1, VCV001807804.1	1

No genotype data were submitted for this variant

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