A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538129



Internal ID15158424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:67356694..67442961hg38UCSC Ensembl
Innerchr1:67822377..67908644hg19UCSC Ensembl
Innerchr1:67594965..67681232hg18UCSC Ensembl
Innerchr1:67534398..67620665hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3886268
hg1986268
hg1886268
hg1786268
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461773
Supporting Variants
SamplesHGDP00047
Known GenesIL12RB2, SERBP1
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)nssv538129
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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