A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3983774



Internal ID19235203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:77179155..77194493hg38UCSC Ensembl
Outerchr14:77645498..77660836hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3815339
hg1915339
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1125587
Supporting Variants
SamplesKWS2
Known GenesTMEM63C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3983774
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