A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700574



Internal ID15090540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:50364252..50576582hg38UCSC Ensembl
Innerchr15:50656449..50868779hg19UCSC Ensembl
Innerchr15:48443741..48656071hg18UCSC Ensembl
Innerchr15:48443741..48656071hg17UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38212331
hg19212331
hg18212331
hg17212331
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524613
Supporting Variants
Samples
Known GenesTRPM7, USP50, USP8
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700574
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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