A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2152870



Internal ID17731930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:44454259..44478604hg38UCSC Ensembl
Innerchr19:44958445..44982821hg19UCSC Ensembl
Innerchr19:49650285..49674661hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3824346
hg1924377
hg1824377
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960853
Supporting Variants
SamplesHGDP00456
Known GenesZNF180
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)nssv2152870
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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