A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541733



Internal ID15512273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:5098223..5267043hg38UCSC Ensembl
Innerchr9:5098223..5267043hg19UCSC Ensembl
Innerchr9:5088223..5257043hg18UCSC Ensembl
Innerchr9:5088223..5257043hg17UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg38168821
hg19168821
hg18168821
hg17168821
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466100
Supporting Variants
SamplesNINDS_223
Known GenesINSL4, INSL6, JAK2
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)nssv541733
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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