A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541999



Internal ID15507041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:103476643..103541971hg38UCSC Ensembl
Innerchr9:106238925..106304253hg19UCSC Ensembl
Innerchr9:105278746..105344074hg18UCSC Ensembl
Innerchr9:103318480..103383808hg17UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg3865329
hg1965329
hg1865329
hg1765329
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466457
Supporting Variants
SamplesHGDP00599
Known Genes
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)nssv541999
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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