A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv684504



Internal ID15421156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:209029330..209035064hg38UCSC Ensembl
Innerchr2:209894054..209899788hg19UCSC Ensembl
Innerchr2:209602299..209608033hg18UCSC Ensembl
Innerchr2:209719560..209725294hg17UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg385735
hg195735
hg185735
hg175735
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516581
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv684504
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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