A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv698549



Internal ID15435201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:86051869..86054782hg38UCSC Ensembl
Innerchr2:86278992..86281905hg19UCSC Ensembl
Innerchr2:86132503..86135416hg18UCSC Ensembl
Innerchr2:86190650..86193563hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg382914
hg192914
hg182914
hg172914
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522891
Supporting Variants
Samples
Known GenesPOLR1A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv698549
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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