A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994770



Internal ID18859278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:184379812..184380812hg38UCSC Ensembl
Outerchr3:184097600..184098600hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1144054
Supporting Variants
SamplesKWS1
Known GenesCHRD
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994770
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer