A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv674071



Internal ID15064037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21537463..21632522hg38UCSC Ensembl
Innerchr1:21863956..21959015hg19UCSC Ensembl
Innerchr1:21736543..21831602hg18UCSC Ensembl
Innerchr1:21609262..21704321hg17UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3895060
hg1995060
hg1895060
hg1795060
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517096
Supporting Variants
Samples
Known GenesALPL, RAP1GAP
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv674071
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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