A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984062



Internal ID18619252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:43138449..43141158hg38UCSC Ensembl
Innerchr15:43430647..43433356hg19UCSC Ensembl
Innerchr15:41217939..41220648hg18UCSC Ensembl
Cytoband15q15.2
Allele length
AssemblyAllele length
hg382710
hg192710
hg182710
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2021010, nssv2021013, nssv2021009, nssv2021014, nssv2021011, nssv2021012, nssv2021008, nssv2021005, nssv2021006, nssv2021007
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTMEM62
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv984062
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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