A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1141328



Internal ID18929101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:7037189..7060389hg38UCSC Ensembl
Outerchr19:7037200..7060400hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3823201
hg1923201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3992832
SamplesKWS2
Known GenesMBD3L2, MBD3L3, MBD3L4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1141328
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