A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518294



Internal ID15098901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:70111212..70301469hg38UCSC Ensembl
Innerchr2:70338344..70528601hg19UCSC Ensembl
Innerchr2:70191848..70382105hg18UCSC Ensembl
Innerchr2:70249995..70440252hg17UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38190258
hg19190258
hg18190258
hg17190258
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695725
Samples
Known GenesC2orf42, FAM136A, LOC100133985, PCYOX1, SNRPG, TIA1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518294
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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