A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv960780



Internal ID18249341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:7665883..7670744hg38UCSC Ensembl
Innerchr19:7730769..7735630hg19UCSC Ensembl
Innerchr19:7636769..7641630hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg384862
hg194862
hg184862
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2129270, nssv2129279, nssv2129272, nssv2129271, nssv2129273, nssv2129277, nssv2129275, nssv2129274, nssv2129278, nssv2129276
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesRETN
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv960780
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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