A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2382811



Internal ID17879361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:149543644..149547000hg38UCSC Ensembl
Innerchr5:148923207..148926563hg19UCSC Ensembl
Innerchr5:148903400..148906756hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg383357
hg193357
hg183357
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980743
Supporting Variants
SamplesHGDP01307
Known GenesCSNK1A1
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)nssv2382811
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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