A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467496



Internal ID15527561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:132738227..132803137hg38UCSC Ensembl
Innerchr10:134551731..134616641hg19UCSC Ensembl
Innerchr10:134401721..134466631hg18UCSC Ensembl
Innerchr10:134401721..134466631hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3864911
hg1964911
hg1864911
hg1764911
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542776
SamplesHGDP01029
Known GenesINPP5A, NKX6-2
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)nsv467496
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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