A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062890



Internal ID19152109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18385668..18571320hg38UCSC Ensembl
Innerchr17:18288982..18474634hg19UCSC Ensembl
Innerchr17:18229707..18415359hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38185653
hg19185653
hg18185653
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3110n100
Supporting Variantsnssv3560439, nssv3719940, nssv3719941
Samples
Known GenesCCDC144B, EVPLL, FAM106A, FLJ35934, KRT16P1, LGALS9C, LOC339240, USP32P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062890
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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