A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961249



Internal ID18596495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54600598..54602642hg38UCSC Ensembl
Innerchr19:55112063..55114107hg19UCSC Ensembl
Innerchr19:59803875..59805919hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg382045
hg192045
hg182045
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2159719, nssv2159722, nssv2159724, nssv2159726, nssv2159725, nssv2159728, nssv2159721, nssv2159727, nssv2159723, nssv2159720
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLILRA1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961249
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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