A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536764



Internal ID15512660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240442666..240471872hg38UCSC Ensembl
Innerchr2:241382083..241411289hg19UCSC Ensembl
Innerchr2:241030756..241059962hg18UCSC Ensembl
Innerchr2:241102073..241131279hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3829207
hg1929207
hg1829207
hg1729207
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460158
Supporting Variants
SamplesNINDS_49
Known GenesGPC1, MIR149, PP14571
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)nssv536764
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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