A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976900



Internal ID18265420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:25338457..25339205hg38UCSC Ensembl
Innerchr15:25583604..25584352hg19UCSC Ensembl
Innerchr15:23134697..23135445hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38749
hg19749
hg18749
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2013151, nssv2013150, nssv2013154, nssv2013156, nssv2013153, nssv2013157, nssv2013152, nssv2013149, nssv2013155, nssv2013158
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesUBE3A
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976900
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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