A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537778



Internal ID15509663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:63588998..64232175hg38UCSC Ensembl
Innerchr4:64454716..65097893hg19UCSC Ensembl
Innerchr4:64137311..64780488hg18UCSC Ensembl
Innerchr4:64283482..64926659hg17UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg38643178
hg19643178
hg18643178
hg17643178
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461390
Supporting Variants
SamplesHGDP01062
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)nssv537778
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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