A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961229



Internal ID18249789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:47365767..47367169hg38UCSC Ensembl
Innerchr19:47869024..47870426hg19UCSC Ensembl
Innerchr19:52560859..52562261hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381403
hg191403
hg181403
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2152509, nssv2152506, nssv2152505, nssv2152507, nssv2152502, nssv2152501, nssv2152508, nssv2152500, nssv2152504, nssv2152503
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesDHX34
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961229
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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