A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2614293



Internal ID17473589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46108645..46113017hg38UCSC Ensembl
Innerchr10:51482805..51487177hg19UCSC Ensembl
Innerchr10:51152811..51157183hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg384373
hg194373
hg184373
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv982768
Supporting Variants
SamplesHGDP00927
Known GenesAGAP7
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2614293
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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