A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524064



Internal ID15451357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:103667819..103672068hg38UCSC Ensembl
Innerchr12:104061597..104065846hg19UCSC Ensembl
Innerchr12:102585727..102589976hg18UCSC Ensembl
Innerchr12:102564064..102568313hg17UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg384250
hg194250
hg184250
hg174250
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699932
Samples
Known GenesSTAB2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv524064
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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