A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537275



Internal ID15505812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:94761005..94935337hg38UCSC Ensembl
Innerchr3:94479849..94654181hg19UCSC Ensembl
Innerchr3:95962539..96136871hg18UCSC Ensembl
Innerchr3:95962539..96136871hg17UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg38174333
hg19174333
hg18174333
hg17174333
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460764
Supporting Variants
SamplesHGDP00232
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)nssv537275
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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