A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542147



Internal ID15165638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:135491367..135577889hg38UCSC Ensembl
Innerchr9:138383213..138469735hg19UCSC Ensembl
Innerchr9:137523034..137609556hg18UCSC Ensembl
Innerchr9:135609158..135695680hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3886523
hg1986523
hg1886523
hg1786523
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466656
Supporting Variants
SamplesNINDS_230
Known GenesC9orf116, LCN1, LOC100130954, MRPS2, OBP2A, PAEP
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)nssv542147
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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