A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2613096



Internal ID17469853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:49993912..49995488hg38UCSC Ensembl
Innerchr10:51753672..51755248hg19UCSC Ensembl
Innerchr10:51423678..51425254hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg381577
hg191577
hg181577
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv982769
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)nssv2613096
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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