A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2657219



Internal ID17770302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14214647..14215946hg38UCSC Ensembl
Innerchr18:14214646..14215945hg19UCSC Ensembl
Innerchr18:14204646..14205945hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg381300
hg191300
hg181300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960667
Supporting Variants
SamplesHGDP00542
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)nssv2657219
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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