A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978848



Internal ID18614051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54238900..54244501hg38UCSC Ensembl
Innerchr19:54742776..54748342hg19UCSC Ensembl
Innerchr19:59434588..59440154hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg385602
hg195567
hg185567
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2159342, nssv2159334, nssv2159339, nssv2159335, nssv2159340, nssv2159338, nssv2159336, nssv2159341, nssv2159343, nssv2159337
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLILRA6
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978848
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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