A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3983994



Internal ID19245414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:189847150..189847226hg38UCSC Ensembl
Outerchr3:189564939..189565015hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1125788
Supporting Variants
SamplesKWS2
Known GenesTP63
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3983994
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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