A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1962257



Internal ID17878796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:48771062..48772062hg38UCSC Ensembl
Innerchr13:49345198..49346198hg19UCSC Ensembl
Innerchr13:48243199..48244199hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974090
Supporting Variants
SamplesHGDP01307
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1962257
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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