A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv963052



Internal ID18598294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:41714363..41721068hg38UCSC Ensembl
Innerchr19:42218282..42224988hg19UCSC Ensembl
Innerchr19:46910122..46916828hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg386706
hg196707
hg186707
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2150474, nssv2150482, nssv2150477, nssv2150480, nssv2150483, nssv2150478, nssv2150481, nssv2150475, nssv2150479, nssv2150476
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesCEACAM5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv963052
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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