A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694055



Internal ID15084021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:17726863..17781183hg38UCSC Ensembl
Innerchr2:17908130..17962450hg19UCSC Ensembl
Innerchr2:17771611..17825931hg18UCSC Ensembl
Innerchr2:17829758..17884078hg17UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg3854321
hg1954321
hg1854321
hg1754321
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522195
Supporting Variants
Samples
Known GenesGEN1, SMC6
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694055
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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