A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2138323



Internal ID17419363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:19795585..19972931hg38UCSC Ensembl
Innerchr19:19906394..20083740hg19UCSC Ensembl
Innerchr19:19767394..19944740hg18UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38177347
hg19177347
hg18177347
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961192
Supporting Variants
SamplesHGDP00542
Known GenesZNF253, ZNF506, ZNF93
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)nssv2138323
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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