A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704111



Internal ID15094077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1639668..1640881hg38UCSC Ensembl
Innerchr12:1748834..1750047hg19UCSC Ensembl
Innerchr12:1619095..1620308hg18UCSC Ensembl
Innerchr12:1619095..1620308hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381214
hg191214
hg181214
hg171214
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527641
Supporting Variants
Samples
Known GenesWNT5B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704111
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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