A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700628



Internal ID15090594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123635436..123709891hg38UCSC Ensembl
Innerchr12:124119983..124194438hg19UCSC Ensembl
Innerchr12:122685936..122760391hg18UCSC Ensembl
Innerchr12:122644863..122719318hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3874456
hg1974456
hg1874456
hg1774456
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524660
Supporting Variants
Samples
Known GenesGTF2H3, TCTN2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700628
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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