A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2022468



Internal ID17883814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:45070454..45081201hg38UCSC Ensembl
Innerchr15:45362652..45373399hg19UCSC Ensembl
Innerchr15:43149944..43160691hg18UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg3810748
hg1910748
hg1810748
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv977711
Supporting Variants
SamplesHGDP01307
Known GenesSORD
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)nssv2022468
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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