A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466534



Internal ID15179913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:114193988..114693530hg38UCSC Ensembl
Innerchr9:116956268..117455810hg19UCSC Ensembl
Innerchr9:115996089..116495631hg18UCSC Ensembl
Innerchr9:114035822..114535364hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38499543
hg19499543
hg18499543
hg17499543
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv948n27
Supporting Variantsnssv542059
SamplesNINDS_133
Known GenesAKNA, ATP6V1G1, C9orf91, COL27A1, DFNB31, LOC100505478, MIR455, ORM1, ORM2
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)nsv466534
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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