A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537332



Internal ID15505147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:119012458..119090661hg38UCSC Ensembl
Innerchr3:118731305..118809508hg19UCSC Ensembl
Innerchr3:120213995..120292198hg18UCSC Ensembl
Innerchr3:120213995..120292198hg17UCSC Ensembl
Cytoband3q13.32
Allele length
AssemblyAllele length
hg3878204
hg1978204
hg1878204
hg1778204
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460832
Supporting Variants
SamplesHGDP00058
Known GenesIGSF11
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)nssv537332
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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