A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2131444



Internal ID17851442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:9820104..9821620hg38UCSC Ensembl
Innerchr19:9930780..9932296hg19UCSC Ensembl
Innerchr19:9791780..9793296hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381517
hg191517
hg181517
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978770
Supporting Variants
SamplesHGDP01029
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)nssv2131444
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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