A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977193



Internal ID19242452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:101267263..101271963hg38UCSC Ensembl
Outerchr14:101733600..101738300hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg384701
hg194701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139607
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977193
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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