A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1149554



Internal ID18849116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89634697..89634762hg38UCSC Ensembl
Outerchr16:89701105..89701170hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000857
SamplesKWB1
Known GenesDPEP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1149554
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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