A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533345



Internal ID15511550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:23637306..23707109hg38UCSC Ensembl
Innerchr2:23860176..23929979hg19UCSC Ensembl
Innerchr2:23713681..23783483hg18UCSC Ensembl
Innerchr2:23771828..23841630hg17UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3869804
hg1969804
hg1869803
hg1769803
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455886
Supporting Variants
SamplesNINDS_111
Known GenesKLHL29
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)nssv533345
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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