A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003348



Internal ID18745880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:20648970..20715062hg38UCSC Ensembl
Innerchr1:20975463..21041555hg19UCSC Ensembl
Innerchr1:20848050..20914142hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3866093
hg1966093
hg1866093
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3469110
Samples
Known GenesDDOST, KIF17, PINK1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003348
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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