A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538240



Internal ID15509215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:8526974..8539701hg38UCSC Ensembl
Innerchr5:8527086..8539813hg19UCSC Ensembl
Innerchr5:8580086..8592813hg18UCSC Ensembl
Innerchr5:8580086..8592813hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3812728
hg1912728
hg1812728
hg1712728
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461930
Supporting Variants
SamplesHGDP00958
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)nssv538240
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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