A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535295



Internal ID15506696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:77750136..77812540hg38UCSC Ensembl
Innerchr2:77977262..78039666hg19UCSC Ensembl
Innerchr2:77830770..77893174hg18UCSC Ensembl
Innerchr2:77888917..77951321hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3862405
hg1962405
hg1862405
hg1762405
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458352
Supporting Variants
SamplesHGDP00544
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)nssv535295
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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