A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2308982



Internal ID17424013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:60323..71704hg38UCSC Ensembl
Innerchr4:60216..71596hg19UCSC Ensembl
Innerchr4:50216..61596hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3811382
hg1911381
hg1811381
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967715
Supporting Variants
SamplesHGDP00542
Known GenesZNF595, ZNF718
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)nssv2308982
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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