A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466590



Internal ID15179969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:130107065..130182266hg38UCSC Ensembl
Innerchr9:132869344..132944545hg19UCSC Ensembl
Innerchr9:131909165..131984366hg18UCSC Ensembl
Innerchr9:129948898..130024099hg17UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3875202
hg1975202
hg1875202
hg1775202
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542101
SamplesHGDP00189
Known GenesGPR107, NCS1
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)nsv466590
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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