A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976743



Internal ID19239228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:83640056..83644956hg38UCSC Ensembl
Outerchr14:84106400..84111300hg19UCSC Ensembl
Cytoband14q31.2
Allele length
AssemblyAllele length
hg384901
hg194901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1124688
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976743
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer