A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542367



Internal ID15162310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46172086..46281263hg38UCSC Ensembl
Innerchr10:47543322..47652499hg19UCSC Ensembl
Innerchr10:47013328..47122505hg18UCSC Ensembl
Innerchr10:47013328..47122505hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38109178
hg19109178
hg18109178
hg17109178
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466929
Supporting Variants
SamplesHGDP00928
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)nssv542367
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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