A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1141457



Internal ID19252381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:44264783..44271983hg38UCSC Ensembl
Outerchr4:44266800..44274000hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg387201
hg197201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3992963
SamplesKWS2
Known GenesKCTD8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1141457
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