A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1006468



Internal ID16300424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:129145506..129151497hg38UCSC Ensembl
Innerchr4:130066661..130072652hg19UCSC Ensembl
Innerchr4:130286111..130292102hg18UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg385992
hg195992
hg185992
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv595405
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)nssv1006468
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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