A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536572



Internal ID15507898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:159382207..159426465hg38UCSC Ensembl
Innerchr2:160238718..160282976hg19UCSC Ensembl
Innerchr2:159946964..159991222hg18UCSC Ensembl
Innerchr2:160064225..160108483hg17UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3844259
hg1944259
hg1844259
hg1744259
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459918
Supporting Variants
SamplesHGDP00734
Known GenesBAZ2B
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)nssv536572
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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