A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970179



Internal ID18605403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:152702139..152715133hg38UCSC Ensembl
Innerchr6:153023274..153036268hg19UCSC Ensembl
Innerchr6:153064967..153077961hg18UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg3812995
hg1912995
hg1812995
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2428097, nssv2428103, nssv2428100, nssv2428096, nssv2428101, nssv2428102, nssv2428094, nssv2428095, nssv2428099, nssv2428098
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesMYCT1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970179
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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