A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536105



Internal ID15161373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130281566..130390535hg38UCSC Ensembl
Innerchr2:131039139..131148108hg19UCSC Ensembl
Innerchr2:130755609..130864578hg18UCSC Ensembl
Innerchr2:130755369..130864338hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38108970
hg19108970
hg18108970
hg17108970
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459341
Supporting Variants
SamplesHGDP00760
Known GenesCCDC115, IMP4, PTPN18
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)nssv536105
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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