A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2021937



Internal ID17785288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:43984660..43990034hg38UCSC Ensembl
Innerchr15:44276858..44282232hg19UCSC Ensembl
Innerchr15:42064150..42069524hg18UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg385375
hg195375
hg185375
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv984063
Supporting Variants
SamplesHGDP00665
Known GenesFRMD5
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)nssv2021937
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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