A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv925277



Internal ID15872547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:169450481..169512288hg38UCSC Ensembl
Innerchr2:170306991..170368798hg19UCSC Ensembl
Innerchr2:170015237..170077044hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3861808
hg1961808
hg1861808
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv583602
Supporting Variants
Samples
Known GenesBBS5, KLHL41
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv925277
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