A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970450



Internal ID18605672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:22765431..22774740hg38UCSC Ensembl
Innerchr7:22805050..22814359hg19UCSC Ensembl
Innerchr7:22771575..22780884hg18UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg389310
hg199310
hg189310
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2438524, nssv2438525, nssv2438527, nssv2438521, nssv2438526, nssv2438519, nssv2438518, nssv2438522, nssv2438520, nssv2438523
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
lineage specific fixed expansions
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970450
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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