A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2040762



Internal ID17752320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:2582644..2586873hg38UCSC Ensembl
Innerchr16:2632645..2636874hg19UCSC Ensembl
Innerchr16:2572646..2576875hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg384230
hg194230
hg184230
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977895
Supporting Variants
SamplesHGDP00521
Known GenesPDPK1
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)nssv2040762
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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