A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962983



Internal ID18251539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:9248978..9279476hg38UCSC Ensembl
Innerchr19:9359654..9390152hg19UCSC Ensembl
Innerchr19:9220654..9251152hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3830499
hg1930499
hg1830499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2131197, nssv2131200, nssv2131202, nssv2131196, nssv2131203, nssv2131201, nssv2131195, nssv2131199, nssv2131732, nssv2131198
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesOR7E24
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962983
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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