A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467185



Internal ID15180564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46239982..46295928hg38UCSC Ensembl
Innerchr10:47611218..47667164hg19UCSC Ensembl
Innerchr10:47081224..47137170hg18UCSC Ensembl
Innerchr10:47081224..47137170hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3855947
hg1955947
hg1855947
hg1755947
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv89n27
Supporting Variantsnssv542535
SamplesHGDP01195
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)nsv467185
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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