A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2156484



Internal ID17383868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:52898467..52977616hg38UCSC Ensembl
Innerchr19:53401720..53480869hg19UCSC Ensembl
Innerchr19:58093532..58172681hg18UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3879150
hg1979150
hg1879150
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963071
Supporting Variants
SamplesHGDP00456
Known GenesZNF321P, ZNF702P, ZNF816, ZNF816-ZNF321P
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)nssv2156484
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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