A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520195



Internal ID15100802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:76286580..76516167hg38UCSC Ensembl
Innerchr12:76680360..76909947hg19UCSC Ensembl
Innerchr12:75204491..75434078hg18UCSC Ensembl
Innerchr12:75182828..75412415hg17UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38229588
hg19229588
hg18229588
hg17229588
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv691259, nssv693371, nssv661598, nssv663698, nssv682197
Samples
Known GenesBBS10, OSBPL8
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520195
Frequency
Sample Size2026
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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