A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461863



Internal ID15175242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:186010756..186210350hg38UCSC Ensembl
Innerchr4:186931910..187131504hg19UCSC Ensembl
Innerchr4:187168904..187368498hg18UCSC Ensembl
Innerchr4:187307059..187506653hg17UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38199595
hg19199595
hg18199595
hg17199595
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv683n27
Supporting Variantsnssv538201
SamplesHGDP00264
Known GenesCYP4V2, FAM149A, FLJ38576, TLR3
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)nsv461863
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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