A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534380



Internal ID15504707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:41147156..41194454hg38UCSC Ensembl
Innerchr2:41374296..41421594hg19UCSC Ensembl
Innerchr2:41227800..41275098hg18UCSC Ensembl
Innerchr2:41285947..41333245hg17UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3847299
hg1947299
hg1847299
hg1747299
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457119
Supporting Variants
Samples1798860084_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)nssv534380
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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