A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458163



Internal ID15518228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71515762..71551985hg38UCSC Ensembl
Innerchr2:71742892..71779115hg19UCSC Ensembl
Innerchr2:71596400..71632623hg18UCSC Ensembl
Innerchr2:71654547..71690770hg17UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3836224
hg1936224
hg1836224
hg1736224
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535164
SamplesHGDP00935
Known GenesDYSF
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)nsv458163
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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