A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540137



Internal ID15161882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161677017..161915562hg38UCSC Ensembl
Innerchr1:161646807..161885352hg19UCSC Ensembl
Innerchr1:159913431..160151976hg18UCSC Ensembl
Innerchr1:158378474..158617010hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38238546
hg19238546
hg18238546
hg17238537
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464184
Supporting Variants
SamplesHGDP00864
Known GenesATF6, DUSP12, FCGR2B, FCRLA, FCRLB, RPL31P11
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)nssv540137
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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