A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2132905



Internal ID17457735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:12146273..12150157hg38UCSC Ensembl
Innerchr19:12257088..12260972hg19UCSC Ensembl
Innerchr19:12118088..12121972hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg383885
hg193885
hg183885
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963006
Supporting Variants
SamplesHGDP00778
Known GenesZNF625, ZNF625-ZNF20
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)nssv2132905
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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