A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538377



Internal ID15512260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:45325813..45470321hg38UCSC Ensembl
Innerchr5:45325915..45470423hg19UCSC Ensembl
Innerchr5:45361672..45506180hg18UCSC Ensembl
Innerchr5:45361672..45506180hg17UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38144509
hg19144509
hg18144509
hg17144509
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462132
Supporting Variants
SamplesNINDS_222
Known GenesHCN1
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)nssv538377
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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