A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984049



Internal ID18272553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:34365535..34408591hg38UCSC Ensembl
Innerchr15:34657736..34700792hg19UCSC Ensembl
Innerchr15:32445028..32488084hg18UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg3843057
hg1943057
hg1843057
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2018473, nssv2018478, nssv2018477, nssv2018482, nssv2018476, nssv2018479, nssv2018474, nssv2018481, nssv2018475, nssv2018480
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesGOLGA8A, LPCAT4, MIR1233-1, MIR1233-2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv984049
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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