A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv912064



Internal ID15859334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:70089078..70191207hg38UCSC Ensembl
Innerchr2:70316210..70418339hg19UCSC Ensembl
Innerchr2:70169714..70271843hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38102130
hg19102130
hg18102130
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv582178
Supporting Variants
Samples
Known GenesC2orf42, LOC100133985, PCBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv912064
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer