A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1823921



Internal ID17529802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:236818080..236824247hg38UCSC Ensembl
Innerchr1:236981380..236987547hg19UCSC Ensembl
Innerchr1:235048003..235054170hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg386168
hg196168
hg186168
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945385
Supporting Variants
SamplesHGDP01307
Known GenesMTR
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)nssv1823921
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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