A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466922



Internal ID15180301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46172086..46279254hg38UCSC Ensembl
Innerchr10:47543322..47650490hg19UCSC Ensembl
Innerchr10:47013328..47120496hg18UCSC Ensembl
Innerchr10:47013328..47120496hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38107169
hg19107169
hg18107169
hg17107169
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv82n27
Supporting Variantsnssv542360
SamplesHGDP00931
Known GenesANTXRLP1
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)nsv466922
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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