A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2131247



Internal ID17516040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:9609691..9621145hg38UCSC Ensembl
Innerchr19:9720367..9731821hg19UCSC Ensembl
Innerchr19:9581367..9592821hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3811455
hg1911455
hg1811455
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978769
Supporting Variants
SamplesHGDP01284
Known GenesZNF561
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)nssv2131247
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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