A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516012



Internal ID15096619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:17459945..17876993hg38UCSC Ensembl
Innerchr6:17460176..17877224hg19UCSC Ensembl
Innerchr6:17568155..17985203hg18UCSC Ensembl
Innerchr6:17568155..17985203hg17UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38417049
hg19417049
hg18417049
hg17417049
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv665717, nssv703532, nssv705642, nssv658310, nssv658078, nssv670663
Samples
Known GenesCAP2, FAM8A1, KIF13A, NUP153
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516012
Frequency
Sample Size2026
Observed Gain5
Observed Loss1
Observed Complex0
Frequencyn/a


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