A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575527



Internal ID16362936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:51417214..51477734hg38UCSC Ensembl
Innerchr17:49494575..49555095hg19UCSC Ensembl
Innerchr17:46849574..46910094hg18UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg3860521
hg1960521
hg1860521
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5685n54
Supporting Variantsnssv873446, nssv1149769, nssv873447
Samples1780862301_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575527
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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