A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466486



Internal ID15526551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:111664695..111715190hg38UCSC Ensembl
Innerchr9:114426975..114477470hg19UCSC Ensembl
Innerchr9:113466796..113517291hg18UCSC Ensembl
Innerchr9:111506530..111557025hg17UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg3850496
hg1950496
hg1850496
hg1750496
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542016
SamplesNINDS_222
Known GenesC9orf84, DNAJC25-GNG10, GNG10
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)nsv466486
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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