A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1140170



Internal ID18917908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:20061987..20062044hg38UCSC Ensembl
Outerchr3:20103479..20103536hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978882
SamplesKWS2
Known GenesKAT2B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1140170
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