A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961192



Internal ID18249752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:19795585..19972931hg38UCSC Ensembl
Innerchr19:19906394..20083740hg19UCSC Ensembl
Innerchr19:19767394..19944740hg18UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38177347
hg19177347
hg18177347
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2138320, nssv2138326, nssv2138322, nssv2138317, nssv2138324, nssv2138325, nssv2138319, nssv2138318, nssv2138323, nssv2138321
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesZNF253, ZNF506, ZNF93
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961192
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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