A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055937



Internal ID18798468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:21331907..21620893hg38UCSC Ensembl
Innerchr17:21235219..21524160hg19UCSC Ensembl
Innerchr17:21175812..21464753hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38288987
hg19288942
hg18288942
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3123n100
Supporting Variantsnssv3720022
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)nsv1055937
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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