A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121160



Internal ID19286114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:20767219..20767539hg38UCSC Ensembl
Outerchr16:20778541..20778861hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1315n106
Supporting Variantsnssv3989054, nssv3965692
SamplesKWS2, KWS1
Known GenesACSM3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121160
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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