A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2028708



Internal ID17404108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:66499279..66503530hg38UCSC Ensembl
Innerchr15:66791617..66795868hg19UCSC Ensembl
Innerchr15:64578671..64582922hg18UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg384252
hg194252
hg184252
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974591
Supporting Variants
SamplesHGDP00521
Known GenesRPL4, SNORD16, SNORD18A, SNORD18B, SNORD18C
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)nssv2028708
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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