A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537299



Internal ID15162979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100635839..100714748hg38UCSC Ensembl
Innerchr3:100354683..100433592hg19UCSC Ensembl
Innerchr3:101837373..101916282hg18UCSC Ensembl
Innerchr3:101837373..101916282hg17UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg3878910
hg1978910
hg1878910
hg1778910
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460789
Supporting Variants
SamplesHGDP01062
Known GenesGPR128, TFG
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)nssv537299
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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