A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977533



Internal ID19242024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:113531498..113536798hg38UCSC Ensembl
Outerchr6:113852700..113858000hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg385301
hg195301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115725
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977533
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