A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv679465



Internal ID15069431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:124927460..124958157hg38UCSC Ensembl
Innerchr12:125412006..125442703hg19UCSC Ensembl
Innerchr12:123977959..124008656hg18UCSC Ensembl
Innerchr12:123936886..123967583hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3830698
hg1930698
hg1830698
hg1730698
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520994
Supporting Variants
Samples
Known GenesDHX37
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv679465
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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