A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2336269



Internal ID17775951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:128081002..128082234hg38UCSC Ensembl
Innerchr4:129002157..129003389hg19UCSC Ensembl
Innerchr4:129221607..129222839hg18UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg381233
hg191233
hg181233
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966318
Supporting Variants
SamplesHGDP00542
Known GenesLARP1B
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)nssv2336269
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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