A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461544



Internal ID15521609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:67931662..68011308hg38UCSC Ensembl
Innerchr4:68797380..68877026hg19UCSC Ensembl
Innerchr4:68479975..68559621hg18UCSC Ensembl
Innerchr4:68626146..68705792hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3879647
hg1979647
hg1879647
hg1779647
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv658n27
Supporting Variantsnssv537924
SamplesHGDP00315
Known GenesTMPRSS11A, TMPRSS11GP
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)nsv461544
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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