A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466441



Internal ID15526506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:98600551..98657550hg38UCSC Ensembl
Innerchr9:101362833..101419832hg19UCSC Ensembl
Innerchr9:100402654..100459653hg18UCSC Ensembl
Innerchr9:98442388..98499387hg17UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg3857000
hg1957000
hg1857000
hg1757000
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541985
Samples1780854419_A
Known GenesGABBR2
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)nsv466441
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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