A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2657628



Internal ID17811025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14216659..14219721hg38UCSC Ensembl
Innerchr18:14216658..14219720hg19UCSC Ensembl
Innerchr18:14206658..14209720hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg383063
hg193063
hg183063
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962895
Supporting Variants
SamplesHGDP00927
Known GenesANKRD20A5P
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2657628
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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