A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543130



Internal ID15157021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:203711364..203765857hg38UCSC Ensembl
Innerchr1:203680492..203734985hg19UCSC Ensembl
Innerchr1:201947115..202001608hg18UCSC Ensembl
Innerchr1:200412149..200466642hg17UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3854494
hg1954494
hg1854494
hg1754494
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467994
Supporting Variants
Samples1780862401_A
Known GenesATP2B4, LAX1, LINC00260, SNORA77
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)nssv543130
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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