A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542351



Internal ID15158364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46172086..46261244hg38UCSC Ensembl
Innerchr10:47543322..47632480hg19UCSC Ensembl
Innerchr10:47013328..47102486hg18UCSC Ensembl
Innerchr10:47013328..47102486hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3889159
hg1989159
hg1889159
hg1789159
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466913
Supporting Variants
SamplesHGDP00029
Known GenesANTXRLP1
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)nssv542351
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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