A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059646



Internal ID19148865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:67118961..67187363hg38UCSC Ensembl
Innerchr17:65115077..65183479hg19UCSC Ensembl
Innerchr17:62545539..62613941hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3868403
hg1968403
hg1868403
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3276n100
Supporting Variantsnssv3567742
Samples
Known GenesHELZ
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059646
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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