A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537625



Internal ID15511020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:7520075..7543152hg38UCSC Ensembl
Innerchr4:7521802..7544879hg19UCSC Ensembl
Innerchr4:7572702..7595779hg18UCSC Ensembl
Innerchr4:7639873..7662950hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3823078
hg1923078
hg1823078
hg1723078
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461207
Supporting Variants
SamplesHGDP01339
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)nssv537625
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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