A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960811



Internal ID18249372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:21017500..21188954hg38UCSC Ensembl
Innerchr19:21200306..21371757hg19UCSC Ensembl
Innerchr19:20992146..21163597hg18UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38171455
hg19171452
hg18171452
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2140189, nssv2140194, nssv2140191, nssv2140188, nssv2140196, nssv2140195, nssv2140197, nssv2140193, nssv2140192, nssv2140190
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesZNF430, ZNF431, ZNF714
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960811
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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