A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970118



Internal ID18605342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:46204954..46207434hg38UCSC Ensembl
Innerchr6:46172691..46175171hg19UCSC Ensembl
Innerchr6:46280650..46283130hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg382481
hg192481
hg182481
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2408484, nssv2408485, nssv2408482, nssv2408483, nssv2408480, nssv2408479, nssv2408477, nssv2408486, nssv2408481, nssv2408478
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970118
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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