A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138053



Internal ID18939207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:77040498..77040557hg38UCSC Ensembl
Outerchr11:76751542..76751604hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg3860
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3985594, nssv3990594
SamplesKWS2, KWS1
Known GenesB3GNT6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138053
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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