A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv928243



Internal ID15875513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:187391431..187505114hg38UCSC Ensembl
Innerchr2:188256158..188369841hg19UCSC Ensembl
Innerchr2:187964403..188078086hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38113684
hg19113684
hg18113684
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv584036
Supporting Variants
Samples
Known GenesCALCRL, TFPI
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv928243
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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