A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978647



Internal ID18613850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14215946..14216659hg38UCSC Ensembl
Innerchr18:14215945..14216658hg19UCSC Ensembl
Innerchr18:14205945..14206658hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38714
hg19714
hg18714
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2657578, nssv2657572, nssv2657571, nssv2657575, nssv2657576, nssv2657573, nssv2657574, nssv2657579, nssv2657577, nssv2657570
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesANKRD20A5P
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978647
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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