A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461542



Internal ID15521607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:67931662..67992826hg38UCSC Ensembl
Innerchr4:68797380..68858544hg19UCSC Ensembl
Innerchr4:68479975..68541139hg18UCSC Ensembl
Innerchr4:68626146..68687310hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3861165
hg1961165
hg1861165
hg1761165
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv658n27
Supporting Variantsnssv537922
SamplesHGDP00333
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)nsv461542
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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