A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112016



Internal ID18913236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:37187206..37187518hg38UCSC Ensembl
Outerchr20:35815609..35815921hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2248n106
Supporting Variantsnssv3964467, nssv3967333
SamplesKWS2, KWS1
Known GenesRPN2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112016
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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