A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1846463



Internal ID17390036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:45894478..45901998hg38UCSC Ensembl
Innerchr10:46389926..46397446hg19UCSC Ensembl
Innerchr10:45709932..45717452hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg387521
hg197521
hg187521
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv947919
Supporting Variants
SamplesHGDP00456
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)nssv1846463
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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