A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466440



Internal ID15526505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:98593342..98605726hg38UCSC Ensembl
Innerchr9:101355624..101368008hg19UCSC Ensembl
Innerchr9:100395445..100407829hg18UCSC Ensembl
Innerchr9:98435179..98447563hg17UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg3812385
hg1912385
hg1812385
hg1712385
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541984
SamplesNINDS_69
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)nsv466440
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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