A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961227



Internal ID18596473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:44148788..44150413hg38UCSC Ensembl
Innerchr19:44652941..44654566hg19UCSC Ensembl
Innerchr19:49344781..49346406hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg381626
hg191626
hg181626
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2152724, nssv2152727, nssv2152725, nssv2152719, nssv2152720, nssv2152723, nssv2152718, nssv2152726, nssv2152722, nssv2152721
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesZNF234
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961227
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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