A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466670



Internal ID15526735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:136093588..136153982hg38UCSC Ensembl
Innerchr9:138985434..139045828hg19UCSC Ensembl
Innerchr9:138125255..138185649hg18UCSC Ensembl
Innerchr9:136211379..136271773hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3860395
hg1960395
hg1860395
hg1760395
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542154
SamplesHGDP00576
Known GenesC9orf69, NACC2
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)nsv466670
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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