A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2064226



Internal ID17767763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:59754231..59754835hg38UCSC Ensembl
Innerchr16:59788135..59788739hg19UCSC Ensembl
Innerchr16:58345636..58346240hg18UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg38605
hg19605
hg18605
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978157
Supporting Variants
SamplesHGDP00542
Known GenesAPOOP5
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)nssv2064226
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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