A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2130911



Internal ID17833717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:9196248..9206801hg38UCSC Ensembl
Innerchr19:9306924..9317477hg19UCSC Ensembl
Innerchr19:9167924..9178477hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3810554
hg1910554
hg1810554
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961174
Supporting Variants
SamplesHGDP00998
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)nssv2130911
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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