A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148867



Internal ID18855880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:43175000..43175081hg38UCSC Ensembl
Outerchr1:43640671..43640752hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997656
SamplesKWB1
Known GenesWDR65
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148867
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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