A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133145



Internal ID18913080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1375749..1375946hg38UCSC Ensembl
Outerchr10:1417944..1418141hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38198
hg19198
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3987981
SamplesKWS1
Known GenesADARB2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133145
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