A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1150731



Internal ID15532341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:74367887..74531807hg38UCSC Ensembl
Innerchr2:74595014..74758934hg19UCSC Ensembl
Innerchr2:74448522..74612442hg18UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg38163921
hg19163921
hg18163921
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv582214
Supporting Variants
SamplesHGDP01296
Known GenesAUP1, C2orf81, CCDC142, DCTN1, DCTN1-AS1, DQX1, HTRA2, INO80B, INO80B-WBP1, LBX2, LBX2-AS1, MOGS, MRPL53, PCGF1, RTKN, TLX2, TTC31, WBP1, WDR54
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1150731
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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