A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542383



Internal ID15160651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46172086..46325790hg38UCSC Ensembl
Innerchr10:47543322..47697026hg19UCSC Ensembl
Innerchr10:47013328..47167032hg18UCSC Ensembl
Innerchr10:47013328..47167032hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38153705
hg19153705
hg18153705
hg17153705
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466946
Supporting Variants
SamplesHGDP00644
Known GenesANTXRL, ANTXRLP1
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)nssv542383
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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