A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2043520



Internal ID17452909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14435798..14444298hg38UCSC Ensembl
Innerchr16:14529655..14538155hg19UCSC Ensembl
Innerchr16:14437156..14445656hg18UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg388501
hg198501
hg188501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974759
Supporting Variants
SamplesHGDP00778
Known GenesPARN
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)nssv2043520
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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