A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523570



Internal ID15104177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1640739..1644124hg38UCSC Ensembl
Innerchr12:1749905..1753290hg19UCSC Ensembl
Innerchr12:1620166..1623551hg18UCSC Ensembl
Innerchr12:1620166..1623551hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg383386
hg193386
hg183386
hg173386
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699352
Samples
Known GenesWNT5B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523570
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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