A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976956



Internal ID18612162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:82199019..82229213hg38UCSC Ensembl
Innerchr15:82491360..82521554hg19UCSC Ensembl
Innerchr15:80278415..80308609hg18UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg3830195
hg1930195
hg1830195
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2033494, nssv2033501, nssv2033493, nssv2033495, nssv2033497, nssv2033499, nssv2033492, nssv2033500, nssv2033496, nssv2033498
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesEFTUD1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976956
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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