A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2022247



Internal ID17731816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:45555352..45557057hg38UCSC Ensembl
Innerchr15:45847550..45849255hg19UCSC Ensembl
Innerchr15:43634842..43636547hg18UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg381706
hg191706
hg181706
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv984066
Supporting Variants
SamplesHGDP00456
Known GenesHMGN2P46
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)nssv2022247
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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