A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993249



Internal ID18877703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89634684..89634829hg38UCSC Ensembl
Outerchr16:89701092..89701237hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141743
Supporting Variants
SamplesKWS1
Known GenesDPEP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993249
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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