A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1131115



Internal ID18925857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:54932788..54936488hg38UCSC Ensembl
Outerchr16:54966700..54970400hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg383701
hg193701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3967819
SamplesKWS2
Known GenesIRX5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1131115
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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