A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534799



Internal ID15503112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:8311399..8354295hg38UCSC Ensembl
Innerchr17:8214717..8257613hg19UCSC Ensembl
Innerchr17:8155442..8198338hg18UCSC Ensembl
Innerchr17:8155442..8198338hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3842897
hg1942897
hg1842897
hg1742897
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457664
Supporting Variants
Samples1780862084_A
Known GenesARHGEF15, ODF4
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)nssv534799
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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