A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2021604



Internal ID17454333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:44560392..44562094hg38UCSC Ensembl
Innerchr15:44852590..44854292hg19UCSC Ensembl
Innerchr15:42639882..42641584hg18UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg381703
hg191703
hg181703
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977706
Supporting Variants
SamplesHGDP00778
Known GenesEIF3J
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)nssv2021604
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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