A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963054



Internal ID18251610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42521032..42523494hg38UCSC Ensembl
Innerchr19:43025184..43027646hg19UCSC Ensembl
Innerchr19:47717024..47719486hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg382463
hg192463
hg182463
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2149704, nssv2149703, nssv2149698, nssv2149701, nssv2149696, nssv2149700, nssv2149702, nssv2149705, nssv2149697, nssv2149699
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesCEACAM1, LIPE-AS1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963054
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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