A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv673345



Internal ID15063311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:37925564..37925676hg38UCSC Ensembl
Innerchr2:38152707..38152819hg19UCSC Ensembl
Innerchr2:38006211..38006323hg18UCSC Ensembl
Innerchr2:38064358..38064470hg17UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38113
hg19113
hg18113
hg17113
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516007
Supporting Variants
Samples
Known GenesRMDN2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv673345
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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