A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534978



Internal ID15158112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:53474186..53557900hg38UCSC Ensembl
Innerchr2:53701324..53785037hg19UCSC Ensembl
Innerchr2:53554828..53638541hg18UCSC Ensembl
Innerchr2:53612975..53696688hg17UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3883715
hg1983714
hg1883714
hg1783714
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457873
Supporting Variants
Samples1798860279_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)nssv534978
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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