A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970441



Internal ID18605663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:5999466..6009211hg38UCSC Ensembl
Innerchr7:6039097..6048842hg19UCSC Ensembl
Innerchr7:6005623..6015368hg18UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg389746
hg199746
hg189746
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2434480, nssv2434478, nssv2434479, nssv2434473, nssv2434475, nssv2434482, nssv2434474, nssv2434481, nssv2434477, nssv2434476
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesPMS2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970441
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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