A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522919



Internal ID15450212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:28350789..28452493hg38UCSC Ensembl
Innerchr12:28503722..28605426hg19UCSC Ensembl
Innerchr12:28394989..28496693hg18UCSC Ensembl
Innerchr12:28394989..28496693hg17UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38101705
hg19101705
hg18101705
hg17101705
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv93n21
Supporting Variantsnssv698580
Samples
Known GenesCCDC91
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522919
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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