A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984067



Internal ID18619257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:47729646..47731181hg38UCSC Ensembl
Innerchr15:48021843..48023378hg19UCSC Ensembl
Innerchr15:45809135..45810670hg18UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg381536
hg191536
hg181536
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2022988, nssv2022979, nssv2022980, nssv2022984, nssv2022982, nssv2022985, nssv2022981, nssv2022987, nssv2022983, nssv2022986
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSEMA6D
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv984067
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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