A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125788



Internal ID19268073
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 StatusM
Merged Variants
Supporting Variantsnssv3983994
SamplesKWS2
Known GenesTP63
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125788
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