A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123082



Internal ID18916364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:87998562..87998612hg38UCSC Ensembl
Outerchr16:88032168..88032218hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972056
SamplesKWS2
Known GenesBANP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123082
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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