A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066929



Internal ID19156148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:21409416..21615833hg38UCSC Ensembl
Innerchr17:21312728..21519100hg19UCSC Ensembl
Innerchr17:21253321..21459693hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38206418
hg19206373
hg18206373
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3124n100
Supporting Variantsnssv3560937, nssv3560936
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)nsv1066929
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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