A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128639



Internal ID19266611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:42213752..42217552hg38UCSC Ensembl
Outerchr10:42709200..42713000hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg383801
hg193801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3960551
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128639
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