A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3990125



Internal ID18893873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141738196..141885530hg38UCSC Ensembl
Outerchr8:142745500..142763100hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38147335
hg1917601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1137623
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3990125
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