A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534985



Internal ID15156682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:53495457..53607946hg38UCSC Ensembl
Innerchr2:53722595..53835083hg19UCSC Ensembl
Innerchr2:53576099..53688587hg18UCSC Ensembl
Innerchr2:53634246..53746734hg17UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38112490
hg19112489
hg18112489
hg17112489
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457886
Supporting Variants
Samples1780862212_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)nssv534985
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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