A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144747



Internal ID19271125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:279300..282900hg38UCSC Ensembl
Outerchr16:329300..332900hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg383601
hg193601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981339
SamplesKWS1
Known GenesARHGDIG
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144747
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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