A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978806



Internal ID18267323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:34680277..34690223hg38UCSC Ensembl
Innerchr19:35171182..35181128hg19UCSC Ensembl
Innerchr19:39863022..39872968hg18UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg389947
hg199947
hg189947
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2145575, nssv2145570, nssv2145578, nssv2145574, nssv2145577, nssv2145569, nssv2145573, nssv2145571, nssv2145576, nssv2145572
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesZNF302
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978806
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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