A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456101



Internal ID15516166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:105125866..105185548hg38UCSC Ensembl
Innerchr13:105778217..105837899hg19UCSC Ensembl
Innerchr13:104576218..104635900hg18UCSC Ensembl
Innerchr13:104576218..104635900hg17UCSC Ensembl
Cytoband13q33.2
Allele length
AssemblyAllele length
hg3859683
hg1959683
hg1859683
hg1759683
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533505
Samples1780862085_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)nsv456101
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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