A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462431



Internal ID15522496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:121581554..121730144hg38UCSC Ensembl
Innerchr5:120917249..121065839hg19UCSC Ensembl
Innerchr5:120945148..121093738hg18UCSC Ensembl
Innerchr5:120945148..121093738hg17UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38148591
hg19148591
hg18148591
hg17148591
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538598
SamplesHGDP01365
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)nsv462431
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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