A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961211



Internal ID18596457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:34468318..34471111hg38UCSC Ensembl
Innerchr19:34959223..34962016hg19UCSC Ensembl
Innerchr19:39651063..39653856hg18UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg382794
hg192794
hg182794
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2145325, nssv2145320, nssv2145326, nssv2145329, nssv2145321, nssv2145328, nssv2145324, nssv2145323, nssv2145322, nssv2145327
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesUBA2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961211
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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