A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461634



Internal ID15521699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:120701902..120844372hg38UCSC Ensembl
Innerchr4:121623057..121765527hg19UCSC Ensembl
Innerchr4:121842507..121984977hg18UCSC Ensembl
Innerchr4:121980662..122123132hg17UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg38142471
hg19142471
hg18142471
hg17142471
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538005
SamplesHGDP01238
Known GenesPRDM5
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)nsv461634
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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