A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535168



Internal ID15512798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71564447..71588636hg38UCSC Ensembl
Innerchr2:71791577..71815766hg19UCSC Ensembl
Innerchr2:71645085..71669274hg18UCSC Ensembl
Innerchr2:71703232..71727421hg17UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3824190
hg1924190
hg1824190
hg1724190
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458174
Supporting Variants
SamplesNINDS_65
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)nssv535168
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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