A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970977



Internal ID18606199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:152794079..152802632hg38UCSC Ensembl
Innerchr7:152491164..152499717hg19UCSC Ensembl
Innerchr7:152122097..152130650hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg388554
hg198554
hg188554
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2488712, nssv2488711, nssv2488715, nssv2488714, nssv2488707, nssv2488716, nssv2488713, nssv2488708, nssv2488709, nssv2488710
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesACTR3B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970977
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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