A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527047



Internal ID15454340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:28317151..28464279hg38UCSC Ensembl
Innerchr12:28470084..28617212hg19UCSC Ensembl
Innerchr12:28361351..28508479hg18UCSC Ensembl
Innerchr12:28361351..28508479hg17UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38147129
hg19147129
hg18147129
hg17147129
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703423
Samples
Known GenesCCDC91
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527047
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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