A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537925



Internal ID15505989
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 Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461545
Supporting Variants
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)nssv537925
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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