A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984074



Internal ID18619264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:55442474..55450160hg38UCSC Ensembl
Innerchr15:55734672..55742358hg19UCSC Ensembl
Innerchr15:53521964..53529650hg18UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg387687
hg197687
hg187687
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2024648, nssv2024649, nssv2024644, nssv2024650, nssv2024651, nssv2024643, nssv2024642, nssv2024646, nssv2024647, nssv2024645
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDYX1C1, DYX1C1-CCPG1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv984074
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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