A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2324207



Internal ID17836777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:76344624..76345624hg38UCSC Ensembl
Innerchr4:77265777..77266777hg19UCSC Ensembl
Innerchr4:77484801..77485801hg18UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967765
Supporting Variants
SamplesHGDP00998
Known GenesCCDC158
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)nssv2324207
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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