A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2364483



Internal ID17753079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:78042608..78043850hg38UCSC Ensembl
Innerchr5:77338432..77339674hg19UCSC Ensembl
Innerchr5:77374188..77375430hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg381243
hg191243
hg181243
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968952
Supporting Variants
SamplesHGDP00521
Known GenesAP3B1
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)nssv2364483
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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