A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv981451



Internal ID18616648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:35191521..35241419hg38UCSC Ensembl
Innerchr7:35231133..35281031hg19UCSC Ensembl
Innerchr7:35197658..35247556hg18UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg3849899
hg1949899
hg1849899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2443471, nssv2443465, nssv2443468, nssv2443464, nssv2443467, nssv2443466, nssv2443463, nssv2443462, nssv2443469, nssv2443470
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesTBX20
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv981451
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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