A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977347



Internal ID19240901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:49773430..49776830hg38UCSC Ensembl
Outerchr18:47299800..47303200hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg383401
hg193401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115537
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977347
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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