A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124743



Internal ID19250531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:74359802..74426102hg38UCSC Ensembl
Outerchr16:74393700..74460000hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3866301
hg1966301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3976797
SamplesKWS2
Known GenesCLEC18B, LOC283922
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124743
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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