A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541684



Internal ID15510641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:238389..634160hg38UCSC Ensembl
Innerchr9:238389..634160hg19UCSC Ensembl
Innerchr9:228389..624160hg18UCSC Ensembl
Innerchr9:228389..624160hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38395772
hg19395772
hg18395772
hg17395772
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466044
Supporting Variants
SamplesHGDP01276
Known GenesDOCK8, KANK1
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)nssv541684
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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