A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv916431



Internal ID15863701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:120343260..120352811hg38UCSC Ensembl
Innerchr2:121100836..121110387hg19UCSC Ensembl
Innerchr2:120817306..120826857hg18UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg389552
hg199552
hg189552
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv582787
Supporting Variants
Samples
Known GenesINHBB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv916431
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