A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961069



Internal ID18596316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14200415..14201725hg38UCSC Ensembl
Innerchr18:14200414..14201724hg19UCSC Ensembl
Innerchr18:14190414..14191724hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg381311
hg191311
hg181311
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2658005, nssv2658002, nssv2658000, nssv2657997, nssv2658001, nssv2657999, nssv2657996, nssv2657998, nssv2658004, nssv2658003
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)nsv961069
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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