A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541748



Internal ID15504114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:7030268..7084558hg38UCSC Ensembl
Innerchr9:7030268..7084558hg19UCSC Ensembl
Innerchr9:7020268..7074558hg18UCSC Ensembl
Innerchr9:7020268..7074558hg17UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg3854291
hg1954291
hg1854291
hg1754291
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466117
Supporting Variants
Samples1780862573_A
Known GenesKDM4C
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)nssv541748
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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