A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2336169



Internal ID17837417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:128067633..128069963hg38UCSC Ensembl
Innerchr4:128988788..128991118hg19UCSC Ensembl
Innerchr4:129208238..129210568hg18UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg382331
hg192331
hg182331
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966317
Supporting Variants
SamplesHGDP00998
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)nssv2336169
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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