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dbVar

Database of genomic structural variation

nsv6636484

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:84,162

Description:GRCh37/hg19 5q22.1-22.2(chr5:111424127-111508288)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: 308 SVs from 48 studies. See in: genome view

Remapped(Score: Perfect):112,088,430-112,172,591

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6636484	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	112,088,430	112,172,591
nsv6636484	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	111,424,127	111,508,288

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18329665	copy number loss	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV002472887.1, VCV001808081.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18329665	Remapped	Perfect	NC_000005.10:g.(?_ 112088430)_(112172 591_?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	112,088,430	112,172,591
nssv18329665	Submitted genomic		NC_000005.9:g.(?_1 11424127)_(1115082 88_?)del	GRCh37 (hg19)		NC_000005.9	Chr5	111,424,127	111,508,288

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
nssv18329665	GRCh37: NC_000005.9:g.(?_111424127)_(111508288_?)del	copy number loss	unknown	not provided	Uncertain significance	ClinVar	RCV002472887.1, VCV001808081.1	1

No genotype data were submitted for this variant

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