A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138547



Internal ID18923327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:45903819..45903967hg38UCSC Ensembl
Outerchr17:43981185..43981333hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3991136
SamplesKWS2
Known GenesMAPT
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138547
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