A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987375



Internal ID19209942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:84299347..84307747hg38UCSC Ensembl
Outerchr4:85220500..85228900hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg388401
hg198401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132591
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987375
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