A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1833588



Internal ID17810842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:24619604..24621572hg38UCSC Ensembl
Innerchr10:24908533..24910501hg19UCSC Ensembl
Innerchr10:24948539..24950507hg18UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg381969
hg191969
hg181969
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv947770
Supporting Variants
SamplesHGDP00927
Known GenesARHGAP21
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1833588
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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