A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537698



Internal ID15165008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:21586675..21637893hg38UCSC Ensembl
Innerchr4:21588298..21639516hg19UCSC Ensembl
Innerchr4:21197396..21248614hg18UCSC Ensembl
Innerchr4:21264567..21315785hg17UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3851219
hg1951219
hg1851219
hg1751219
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461289
Supporting Variants
SamplesNINDS_130
Known GenesKCNIP4
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)nssv537698
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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