A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2147657



Internal ID17800923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:37779598..37803066hg38UCSC Ensembl
Innerchr19:38270238..38293706hg19UCSC Ensembl
Innerchr19:42962078..42985546hg18UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3823469
hg1923469
hg1823469
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960835
Supporting Variants
SamplesHGDP00778
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)nssv2147657
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