A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2019466



Internal ID17473846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:40948061..40948664hg38UCSC Ensembl
Innerchr15:41240259..41240862hg19UCSC Ensembl
Innerchr15:39027551..39028154hg18UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg38604
hg19604
hg18604
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977703
Supporting Variants
SamplesHGDP00927
Known Genes
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)nssv2019466
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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