A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541873



Internal ID15502308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:19281101..19516865hg38UCSC Ensembl
Innerchr9:19281099..19516863hg19UCSC Ensembl
Innerchr9:19271099..19506863hg18UCSC Ensembl
Innerchr9:19271099..19506863hg17UCSC Ensembl
Cytoband9p22.1
Allele length
AssemblyAllele length
hg38235765
hg19235765
hg18235765
hg17235765
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466286
Supporting Variants
Samples1780854295_A
Known GenesACER2, DENND4C, RPS6, SLC24A2
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)nssv541873
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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