A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542322



Internal ID15160485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:34966937..35052373hg38UCSC Ensembl
Innerchr10:35255865..35341301hg19UCSC Ensembl
Innerchr10:35295871..35381307hg18UCSC Ensembl
Innerchr10:35295871..35381307hg17UCSC Ensembl
Cytoband10p11.21
Allele length
AssemblyAllele length
hg3885437
hg1985437
hg1885437
hg1785437
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466869
Supporting Variants
SamplesHGDP00618
Known GenesCUL2
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)nssv542322
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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