A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961214



Internal ID18596460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:37003797..37015325hg38UCSC Ensembl
Innerchr19:37494699..37506227hg19UCSC Ensembl
Innerchr19:42186539..42198067hg18UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3811529
hg1911529
hg1811529
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2147140, nssv2147132, nssv2147137, nssv2147135, nssv2147133, nssv2147131, nssv2147139, nssv2147136, nssv2147134, nssv2147138
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961214
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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