A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2613178



Internal ID17464873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:50002819..50003319hg38UCSC Ensembl
Innerchr10:51762579..51763079hg19UCSC Ensembl
Innerchr10:51432585..51433085hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv982770
Supporting Variants
SamplesHGDP00927
Known GenesAGAP6
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)nssv2613178
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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