A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461558



Internal ID15174937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:76112572..76194400hg38UCSC Ensembl
Innerchr4:77033725..77115553hg19UCSC Ensembl
Innerchr4:77252749..77334577hg18UCSC Ensembl
Innerchr4:77390904..77472732hg17UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg3881829
hg1981829
hg1881829
hg1781829
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537936
SamplesHGDP01280
Known GenesART3, NUP54, SCARB2
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)nsv461558
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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