A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1149129



Internal ID19195840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:48475016..48479517hg38UCSC Ensembl
Outerchr12:48868799..48873300hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg384502
hg194502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4002640
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1149129
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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