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dbVar

Database of genomic structural variation

nsv4455130

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:468,635

Description:GRCh37/hg19 8q11.23(chr8:53548484-54017118)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: 1547 SVs from 88 studies. See in: genome view

Remapped(Score: Perfect):52,635,924-53,104,558

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4455130	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	52,635,924	53,104,558
nsv4455130	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	53,548,484	54,017,118

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15774723	copy number loss	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV000846296.2, VCV000685588.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15774723	Remapped	Perfect	NC_000008.11:g.(?_ 52635924)_(5310455 8_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	52,635,924	53,104,558
nssv15774723	Submitted genomic		NC_000008.10:g.(?_ 53548484)_(5401711 8_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	53,548,484	54,017,118

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
nssv15774723	GRCh37: NC_000008.10:g.(?_53548484)_(54017118_?)del	copy number loss	unknown	not provided	Uncertain significance	ClinVar	RCV000846296.2, VCV000685588.2	1

No genotype data were submitted for this variant

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