A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971627



Internal ID18260158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7892673..7913750hg38UCSC Ensembl
Innerchr8:7750195..7771272hg19UCSC Ensembl
Innerchr8:7787605..7808682hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3821078
hg1921078
hg1821078
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2493370, nssv2493368, nssv2493372, nssv2493363, nssv2493371, nssv2493366, nssv2493364, nssv2493369, nssv2493367, nssv2493365
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDEFB4A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv971627
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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