A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976936



Internal ID18612142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:52505211..52508588hg38UCSC Ensembl
Innerchr15:52797408..52800785hg19UCSC Ensembl
Innerchr15:50584700..50588077hg18UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg383378
hg193378
hg183378
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2024282, nssv2024277, nssv2024273, nssv2024281, nssv2024275, nssv2024274, nssv2024279, nssv2024278, nssv2024276, nssv2024280
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMYO5A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976936
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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