A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2614373



Internal ID17440529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:49988703..49990996hg38UCSC Ensembl
Innerchr10:51748463..51750756hg19UCSC Ensembl
Innerchr10:51418469..51420762hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg382294
hg192294
hg182294
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv971761
Supporting Variants
SamplesHGDP00665
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)nssv2614373
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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