A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461864



Internal ID15175243
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538202
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)nsv461864
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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