A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2044439



Internal ID17537800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:14678216..14774331hg38UCSC Ensembl
Innerchr16:14772073..14868188hg19UCSC Ensembl
Innerchr16:14679574..14775689hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg3896116
hg1996116
hg1896116
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv984262
Supporting Variants
SamplesHGDP01307
Known GenesNPIPA2, NPIPA3, PLA2G10
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)nssv2044439
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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