A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542375



Internal ID15160502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46172086..46295928hg38UCSC Ensembl
Innerchr10:47543322..47667164hg19UCSC Ensembl
Innerchr10:47013328..47137170hg18UCSC Ensembl
Innerchr10:47013328..47137170hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38123843
hg19123843
hg18123843
hg17123843
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466937
Supporting Variants
SamplesHGDP00621
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)nssv542375
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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