A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542060



Internal ID15165358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:114195864..114693895hg38UCSC Ensembl
Innerchr9:116958144..117456175hg19UCSC Ensembl
Innerchr9:115997965..116495996hg18UCSC Ensembl
Innerchr9:114037698..114535729hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38498032
hg19498032
hg18498032
hg17498032
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466535
Supporting Variants
SamplesNINDS_192
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)nssv542060
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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