A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1111596



Internal ID18927893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:37187235..37187517hg38UCSC Ensembl
Outerchr20:35815638..35815920hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38283
hg19283
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2248n106
Supporting Variantsnssv3964488
SamplesKWS2
Known GenesRPN2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1111596
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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