A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538016



Internal ID15508565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:135732439..135788675hg38UCSC Ensembl
Innerchr4:136653594..136709830hg19UCSC Ensembl
Innerchr4:136873044..136929280hg18UCSC Ensembl
Innerchr4:137011199..137067435hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3856237
hg1956237
hg1856237
hg1756237
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461653
Supporting Variants
SamplesHGDP00863
Known Genes
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)nssv538016
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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