A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1006486



Internal ID16300442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:130253916..130332018hg38UCSC Ensembl
Innerchr4:131175071..131253173hg19UCSC Ensembl
Innerchr4:131394521..131472623hg18UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3878103
hg1978103
hg1878103
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv595417
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1006486
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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