A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974536



Internal ID18609747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:27894286..27898677hg38UCSC Ensembl
Innerchr15:28139432..28143823hg19UCSC Ensembl
Innerchr15:25813027..25817418hg18UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg384392
hg194392
hg184392
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2014220, nssv2013050, nssv2014221, nssv2013048, nssv2014222, nssv2013049, nssv2013047, nssv2013051, nssv2014218, nssv2014219
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesOCA2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974536
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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