A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv698419



Internal ID15435071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:207173176..207174899hg38UCSC Ensembl
Innerchr2:208037900..208039623hg19UCSC Ensembl
Innerchr2:207746145..207747868hg18UCSC Ensembl
Innerchr2:207863406..207865129hg17UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg381724
hg191724
hg181724
hg171724
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522777
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv698419
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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