A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460533



Internal ID15173912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:50536782..50640720hg38UCSC Ensembl
Innerchr3:50574213..50678151hg19UCSC Ensembl
Innerchr3:50549217..50653155hg18UCSC Ensembl
Innerchr3:50549217..50653155hg17UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg38103939
hg19103939
hg18103939
hg17103939
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537085
SamplesHGDP00602
Known GenesC3orf18, CISH, HEMK1, MAPKAPK3
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)nsv460533
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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