A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538202



Internal ID15160161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:186085652..186335850hg38UCSC Ensembl
Innerchr4:187006806..187257004hg19UCSC Ensembl
Innerchr4:187243800..187493998hg18UCSC Ensembl
Innerchr4:187381955..187632153hg17UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38250199
hg19250199
hg18250199
hg17250199
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461864
Supporting Variants
SamplesHGDP00563
Known GenesCYP4V2, F11, F11-AS1, FAM149A, FLJ38576, KLKB1
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)nssv538202
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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