A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977177



Internal ID19232833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:18223623..18393223hg38UCSC Ensembl
Outerchr14:19000100..19169700hg19UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38169601
hg19169601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139591
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977177
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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