A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458185



Internal ID15171564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:74367887..74531807hg38UCSC Ensembl
Innerchr2:74595014..74758934hg19UCSC Ensembl
Innerchr2:74448522..74612442hg18UCSC Ensembl
Innerchr2:74506669..74670589hg17UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg38163921
hg19163921
hg18163921
hg17163921
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535173
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
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv458185
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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