A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2613260



Internal ID17471101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:49991917..50000227hg38UCSC Ensembl
Innerchr10:51234952..51243215hg19UCSC Ensembl
Innerchr10:50904958..50913221hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg388311
hg198264
hg188264
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971760
Supporting Variants
SamplesHGDP00927
Known GenesAGAP8, PARG
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)nssv2613260
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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