A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466091



Internal ID15179470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:3349487..3389660hg38UCSC Ensembl
Innerchr9:3349487..3389660hg19UCSC Ensembl
Innerchr9:3339487..3379660hg18UCSC Ensembl
Innerchr9:3339487..3379660hg17UCSC Ensembl
Cytoband9p24.2
Allele length
AssemblyAllele length
hg3840174
hg1940174
hg1840174
hg1740174
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541724
SamplesNINDS_147
Known GenesRFX3
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)nsv466091
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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