A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978607



Internal ID18267124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:12449631..12451711hg38UCSC Ensembl
Innerchr18:12449630..12451710hg19UCSC Ensembl
Innerchr18:12439630..12441710hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg382081
hg192081
hg182081
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2115883, nssv2115879, nssv2115884, nssv2115882, nssv2115878, nssv2115885, nssv2115877, nssv2115876, nssv2115880, nssv2115881
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSPIRE1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978607
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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