A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705580



Internal ID15095546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:95536492..95592426hg38UCSC Ensembl
Innerchr12:95930268..95986202hg19UCSC Ensembl
Innerchr12:94454399..94510333hg18UCSC Ensembl
Innerchr12:94432736..94488670hg17UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3855935
hg1955935
hg1855935
hg1755935
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528896
Supporting Variants
Samples
Known GenesUSP44
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705580
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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