A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533707



Internal ID15508648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:37442344..37641071hg38UCSC Ensembl
Innerchr2:37669487..37868214hg19UCSC Ensembl
Innerchr2:37522991..37721718hg18UCSC Ensembl
Innerchr2:37581138..37779865hg17UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38198728
hg19198728
hg18198728
hg17198728
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456374
Supporting Variants
SamplesHGDP00880
Known Genes
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)nssv533707
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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