A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461545



Internal ID15521610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:67931662..68011858hg38UCSC Ensembl
Innerchr4:68797380..68877576hg19UCSC Ensembl
Innerchr4:68479975..68560171hg18UCSC Ensembl
Innerchr4:68626146..68706342hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3880197
hg1980197
hg1880197
hg1780197
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv658n27
Supporting Variantsnssv537925
SamplesHGDP00313
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)nsv461545
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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