A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978275



Internal ID19234021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:88149671..88161671hg38UCSC Ensembl
Outerchr8:89161900..89173900hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3812001
hg1912001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139939
Supporting Variants
SamplesKWS2
Known GenesMMP16
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978275
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