A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542728



Internal ID15508088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:92956556..93019793hg38UCSC Ensembl
Innerchr10:94716313..94779550hg19UCSC Ensembl
Innerchr10:94706293..94769530hg18UCSC Ensembl
Innerchr10:94706293..94769530hg17UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg3863238
hg1963238
hg1863238
hg1763238
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467435
Supporting Variants
SamplesHGDP00766
Known GenesEXOC6
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)nssv542728
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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