A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv974590



Internal ID18609801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:66442290..66452436hg38UCSC Ensembl
Innerchr15:66734628..66744774hg19UCSC Ensembl
Innerchr15:64521682..64531828hg18UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg3810147
hg1910147
hg1810147
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2029049, nssv2029048, nssv2029043, nssv2029050, nssv2029046, nssv2029045, nssv2029044, nssv2029041, nssv2029047, nssv2029042
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMAP2K1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv974590
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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