A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064543



Internal ID19153762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:21402068..21641965hg38UCSC Ensembl
Innerchr17:21305380..21545210hg19UCSC Ensembl
Innerchr17:21245973..21485803hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38239898
hg19239831
hg18239831
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3124n100
Supporting Variantsnssv3560930
Samples
Known GenesC17orf51, KCNJ12, KCNJ18
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064543
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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