A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537311



Internal ID15512828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:104643869..104663244hg38UCSC Ensembl
Innerchr3:104362713..104382088hg19UCSC Ensembl
Innerchr3:105845403..105864778hg18UCSC Ensembl
Innerchr3:105845403..105864778hg17UCSC Ensembl
Cytoband3q13.11
Allele length
AssemblyAllele length
hg3819376
hg1919376
hg1819376
hg1719376
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460807
Supporting Variants
SamplesNINDS_67
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)nssv537311
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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