A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696559



Internal ID15086525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:18574386..18709413hg38UCSC Ensembl
Innerchr2:18755652..18890679hg19UCSC Ensembl
Innerchr2:18619133..18754160hg18UCSC Ensembl
Innerchr2:18677280..18812307hg17UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg38135028
hg19135028
hg18135028
hg17135028
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519085
Supporting Variants
Samples
Known GenesNT5C1B, NT5C1B-RDH14
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696559
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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