A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1141165



Internal ID18912736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236713700..236715100hg38UCSC Ensembl
Outerchr1:236877000..236878400hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg381401
hg191401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3960544, nssv3976433
SamplesKWS1, KWS2
Known GenesACTN2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1141165
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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