A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136041



Internal ID18922997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:47055183..47061921hg38UCSC Ensembl
Outerchr20:45683822..45690560hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg386739
hg196739
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3980282, nssv3989646
SamplesKWS2, KWS1
Known GenesEYA2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136041
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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