A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1869680



Internal ID17746472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:125920261..125924877hg38UCSC Ensembl
Innerchr10:127608830..127613446hg19UCSC Ensembl
Innerchr10:127598820..127603436hg18UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg384617
hg194617
hg184617
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv948224
Supporting Variants
SamplesHGDP00521
Known GenesFANK1
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)nssv1869680
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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