A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130695



Internal ID18924602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:10764775..10764837hg38UCSC Ensembl
Outerchr16:10858632..10858694hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1297n106
Supporting Variantsnssv3967013
SamplesKWS2
Known GenesNUBP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130695
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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