A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534841



Internal ID15502587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:21358248..21399695hg38UCSC Ensembl
Innerchr17:21261560..21303007hg19UCSC Ensembl
Innerchr17:21202153..21243600hg18UCSC Ensembl
Innerchr17:21202153..21243600hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3841448
hg1941448
hg1841448
hg1741448
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457709
Supporting Variants
Samples1780854462_A
Known GenesKCNJ12
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)nssv534841
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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