A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126300



Internal ID18910000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:73376255..73376955hg38UCSC Ensembl
Outerchr11:73087300..73088000hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984536
SamplesKWS1
Known GenesRELT
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126300
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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