A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv603378



Internal ID16390787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:63952818..63958300hg38UCSC Ensembl
Innerchr6:64662711..64668193hg19UCSC Ensembl
Innerchr6:64720670..64726152hg18UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg385483
hg195483
hg185483
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10717n54
Supporting Variantsnssv1061466
Samples
Known GenesEYS
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv603378
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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