A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062096



Internal ID18804627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:47339172..47441317hg38UCSC Ensembl
Innerchr17:45416538..45518683hg19UCSC Ensembl
Innerchr17:42771537..42873682hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38102146
hg19102146
hg18102146
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3261n100
Supporting Variantsnssv3568601
Samples
Known GenesEFCAB13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062096
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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