A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2613337



Internal ID17395850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:49985224..49991917hg38UCSC Ensembl
Innerchr10:51243215..51249915hg19UCSC Ensembl
Innerchr10:50913221..50919921hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg386694
hg196701
hg186701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv974943
Supporting Variants
SamplesHGDP00456
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)nssv2613337
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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