A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537484



Internal ID15512445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:184446829..184545885hg38UCSC Ensembl
Innerchr3:184164617..184263673hg19UCSC Ensembl
Innerchr3:185647311..185746367hg18UCSC Ensembl
Innerchr3:185647319..185746375hg17UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg3899057
hg1999057
hg1899057
hg1799057
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461032
Supporting Variants
SamplesNINDS_254
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)nssv537484
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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