A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537306



Internal ID15509241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:103403741..103493864hg38UCSC Ensembl
Innerchr3:103122585..103212708hg19UCSC Ensembl
Innerchr3:104605275..104695398hg18UCSC Ensembl
Innerchr3:104605275..104695398hg17UCSC Ensembl
Cytoband3q13.11
Allele length
AssemblyAllele length
hg3890124
hg1990124
hg1890124
hg1790124
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460799
Supporting Variants
SamplesHGDP00963
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)nssv537306
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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