A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537591



Internal ID15502854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1306289..1358897hg38UCSC Ensembl
Innerchr4:1300077..1352685hg19UCSC Ensembl
Innerchr4:1290077..1342685hg18UCSC Ensembl
Innerchr4:1289907..1342515hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3852609
hg1952609
hg1852609
hg1752609
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461157
Supporting Variants
Samples1780854573_A
Known GenesMAEA, UVSSA
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)nssv537591
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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