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dbVar

Database of genomic structural variation

nsv3905625

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:443,450

Description:GRCh37/hg19 8q12.2-12.3(chr8:62172667-62616116)x1 AND See cases

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: 922 SVs from 64 studies. See in: genome view

Remapped(Score: Perfect):61,260,108-61,703,557

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3905625	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	61,260,108	61,703,557
nsv3905625	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	62,172,667	62,616,116

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15149950	copy number loss	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000511736.2, VCV000442302.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15149950	Remapped	Perfect	NC_000008.11:g.(?_ 61260108)_(6170355 7_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	61,260,108	61,703,557
nssv15149950	Submitted genomic		NC_000008.10:g.(?_ 62172667)_(6261611 6_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	62,172,667	62,616,116

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
nssv15149950	GRCh37: NC_000008.10:g.(?_62172667)_(62616116_?)del	copy number loss	not provided	See cases	Uncertain significance	ClinVar	RCV000511736.2, VCV000442302.2	1

No genotype data were submitted for this variant

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