A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970583



Internal ID18605805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:138440766..138453073hg38UCSC Ensembl
Innerchr7:138125511..138137818hg19UCSC Ensembl
Innerchr7:137776051..137788358hg18UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg3812308
hg1912308
hg1812308
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2480328, nssv2480332, nssv2480324, nssv2480330, nssv2480331, nssv2480325, nssv2480333, nssv2480329, nssv2480327, nssv2480326
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970583
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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