A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2334661



Internal ID17426655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:119402291..119454512hg38UCSC Ensembl
Innerchr4:120323446..120375667hg19UCSC Ensembl
Innerchr4:120542894..120595115hg18UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg3852222
hg1952222
hg1852222
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966315
Supporting Variants
SamplesHGDP00542
Known GenesLINC01061
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)nssv2334661
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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