A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700155



Internal ID15436807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:128507432..128531581hg38UCSC Ensembl
Innerchr2:129265006..129289155hg19UCSC Ensembl
Innerchr2:128981476..129005625hg18UCSC Ensembl
Innerchr2:128981236..129005385hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3824150
hg1924150
hg1824150
hg1724150
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524258
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700155
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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