A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2162205



Internal ID17536904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:57491030..57505424hg38UCSC Ensembl
Innerchr19:58002398..58016792hg19UCSC Ensembl
Innerchr19:62694210..62708604hg18UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg3814395
hg1914395
hg1814395
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963083
Supporting Variants
SamplesHGDP01307
Known GenesZNF419, ZNF773
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)nssv2162205
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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