A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981548



Internal ID18616745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:93669233..93670494hg38UCSC Ensembl
Innerchr7:93298545..93299806hg19UCSC Ensembl
Innerchr7:93136481..93137742hg18UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg381262
hg191262
hg181262
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2469914, nssv2469915, nssv2469910, nssv2469909, nssv2469906, nssv2469912, nssv2469907, nssv2469913, nssv2469908, nssv2469911
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)nsv981548
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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