A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2295827



Internal ID17403576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:136155945..136156546hg38UCSC Ensembl
Innerchr3:135874787..135875388hg19UCSC Ensembl
Innerchr3:137357477..137358078hg18UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg38602
hg19602
hg18602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv967069
Supporting Variants
SamplesHGDP00521
Known GenesMSL2
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)nssv2295827
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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