A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4011868



Internal ID22073499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:57100840..57108185hg38UCSC Ensembl
Outerchr17:57096744..57110686hg38UCSC Ensembl
Innerchr17:55178201..55185546hg19UCSC Ensembl
Outerchr17:55174105..55188047hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3813943
hg1913943
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1155488
Supporting Variants
Samples
Known GenesAKAP1
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4011868
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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