A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2023611



Internal ID17854912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:48725117..48726636hg38UCSC Ensembl
Innerchr15:49017314..49018833hg19UCSC Ensembl
Innerchr15:46804606..46806125hg18UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg381520
hg191520
hg181520
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv974570
Supporting Variants
SamplesHGDP01029
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2023611
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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