A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122644



Internal ID18907238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:74806694..74807065hg38UCSC Ensembl
Outerchr11:74517739..74518110hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38372
hg19372
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3970854
SamplesKWS2
Known GenesRNF169
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122644
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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