A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537961



Internal ID15507013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:91916433..92455080hg38UCSC Ensembl
Innerchr4:92837584..93376231hg19UCSC Ensembl
Innerchr4:93056607..93595254hg18UCSC Ensembl
Innerchr4:93194762..93733409hg17UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38538648
hg19538648
hg18538648
hg17538648
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461587
Supporting Variants
SamplesHGDP00591
Known GenesGRID2
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)nssv537961
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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