A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468594



Internal ID15528659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:238922883..238957067hg38UCSC Ensembl
Innerchr1:239086183..239120367hg19UCSC Ensembl
Innerchr1:237152806..237186990hg18UCSC Ensembl
Innerchr1:235412224..235446408hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3834185
hg1934185
hg1834185
hg1734185
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543701
SamplesHGDP01238
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)nsv468594
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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