A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv978601



Internal ID18613804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:11609859..11618827hg38UCSC Ensembl
Innerchr18:11609858..11618826hg19UCSC Ensembl
Innerchr18:11599858..11608826hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg388969
hg198969
hg188969
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2654491, nssv2654495, nssv2654487, nssv2654489, nssv2654490, nssv2654488, nssv2654493, nssv2654494, nssv2654486, nssv2654492
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSLC35G4
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv978601
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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