A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533310



Internal ID15504108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:20886933..20935817hg38UCSC Ensembl
Innerchr2:21086693..21135577hg19UCSC Ensembl
Innerchr2:20950174..20999058hg18UCSC Ensembl
Innerchr2:21008321..21057205hg17UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3848885
hg1948885
hg1848885
hg1748885
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455841
Supporting Variants
Samples1780862564_A
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)nssv533310
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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