A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702270



Internal ID15438922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:11228952..11349405hg38UCSC Ensembl
Innerchr2:11369078..11489531hg19UCSC Ensembl
Innerchr2:11286529..11406982hg18UCSC Ensembl
Innerchr2:11319676..11440129hg17UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38120454
hg19120454
hg18120454
hg17120454
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526038
Supporting Variants
Samples
Known GenesROCK2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702270
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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