A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978828



Internal ID18614031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:44100750..44102502hg38UCSC Ensembl
Innerchr19:44604903..44606655hg19UCSC Ensembl
Innerchr19:49296743..49298495hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg381753
hg191753
hg181753
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2152527, nssv2152532, nssv2152530, nssv2152526, nssv2152525, nssv2152531, nssv2152533, nssv2152524, nssv2152529, nssv2152528
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesZNF224
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978828
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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