A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461823



Internal ID15521888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:167395597..167557494hg38UCSC Ensembl
Innerchr4:168316748..168478645hg19UCSC Ensembl
Innerchr4:168553323..168715220hg18UCSC Ensembl
Innerchr4:168691478..168853375hg17UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38161898
hg19161898
hg18161898
hg17161898
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538169
Samples1780862576_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)nsv461823
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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