A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136501



Internal ID19271599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:6879353..6879427hg38UCSC Ensembl
Outerchr20:6860000..6860074hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972889
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136501
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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