A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537627



Internal ID15508255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:7524012..7543152hg38UCSC Ensembl
Innerchr4:7525739..7544879hg19UCSC Ensembl
Innerchr4:7576639..7595779hg18UCSC Ensembl
Innerchr4:7643810..7662950hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3819141
hg1919141
hg1819141
hg1719141
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461209
Supporting Variants
SamplesHGDP00788
Known GenesSORCS2
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)nssv537627
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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