A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1069592



Internal ID18971832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:64855815..64856020hg38UCSC Ensembl
chr11:64623287..64623492hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38206
hg19206
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3768350
SamplesKWP1
Known GenesEHD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1069592
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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