A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542681



Internal ID15506025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:69710213..69728284hg38UCSC Ensembl
Innerchr10:71469969..71488040hg19UCSC Ensembl
Innerchr10:71139975..71158046hg18UCSC Ensembl
Innerchr10:71139975..71158046hg17UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg3818072
hg1918072
hg1818072
hg1718072
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467365
Supporting Variants
SamplesHGDP00330
Known Genes
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)nssv542681
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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