A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv976321



Internal ID18611527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23399964..23403907hg38UCSC Ensembl
Innerchr14:23869173..23873116hg19UCSC Ensembl
Innerchr14:22939013..22942956hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg383944
hg193944
hg183944
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1979204, nssv1979202, nssv1979203, nssv1979205, nssv1979208, nssv1979201, nssv1979206, nssv1979209, nssv1979210, nssv1979207
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMYH6
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv976321
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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