A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537599



Internal ID15159345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:3411482..3447925hg38UCSC Ensembl
Innerchr4:3413209..3449652hg19UCSC Ensembl
Innerchr4:3383007..3419450hg18UCSC Ensembl
Innerchr4:3450178..3486621hg17UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg3836444
hg1936444
hg1836444
hg1736444
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461168
Supporting Variants
SamplesHGDP00330
Known GenesHGFAC, RGS12
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)nssv537599
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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