A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2325197



Internal ID17508850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:76666284..76672177hg38UCSC Ensembl
Innerchr4:77587437..77593330hg19UCSC Ensembl
Innerchr4:77806461..77812354hg18UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg385894
hg195894
hg185894
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967767
Supporting Variants
SamplesHGDP01029
Known GenesSHROOM3
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)nssv2325197
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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