A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv537940



Internal ID15504101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:82028527..82146518hg38UCSC Ensembl
Innerchr4:82949680..83067671hg19UCSC Ensembl
Innerchr4:83168704..83286695hg18UCSC Ensembl
Innerchr4:83306859..83424850hg17UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg38117992
hg19117992
hg18117992
hg17117992
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461564
Supporting Variants
Samples1780862563_A
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)nssv537940
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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