A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2615012



Internal ID17522539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:50008912..50011793hg38UCSC Ensembl
Innerchr10:51223380..51226264hg19UCSC Ensembl
Innerchr10:50893386..50896270hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg382882
hg192885
hg182885
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv982764
Supporting Variants
SamplesHGDP01284
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)nssv2615012
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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