A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582699



Internal ID16023422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110763166..112172487hg38UCSC Ensembl
Innerchr2:111520743..112930064hg19UCSC Ensembl
Innerchr2:111237214..112646535hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg381409322
hg191409322
hg181409322
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv916083
Samples
Known GenesACOXL, ANAPC1, BCL2L11, FBLN7, MERTK, MIR4435-1, MIR4435-1HG, MIR4435-2, MIR4771-1, MIR4771-2, TMEM87B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582699
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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