A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv687929



Internal ID15424581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:5918331..5921271hg38UCSC Ensembl
Innerchr12:6027497..6030437hg19UCSC Ensembl
Innerchr12:5897758..5900698hg18UCSC Ensembl
Innerchr12:5897758..5900698hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg382941
hg192941
hg182941
hg172941
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517527
Supporting Variants
Samples
Known GenesANO2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv687929
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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