A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462531



Internal ID15522596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172711784..172749901hg38UCSC Ensembl
Innerchr5:172138787..172176904hg19UCSC Ensembl
Innerchr5:172071392..172109509hg18UCSC Ensembl
Innerchr5:172071392..172109509hg17UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3838118
hg1938118
hg1838118
hg1738118
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538671
SamplesNINDS_70
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)nsv462531
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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