A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970531



Internal ID18605753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:73291991..73324627hg38UCSC Ensembl
Innerchr7:72705994..72738625hg19UCSC Ensembl
Innerchr7:72343930..72376561hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3832637
hg1932632
hg1832632
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2465007, nssv2465005, nssv2465008, nssv2465003, nssv2465006, nssv2465001, nssv2465004, nssv2465000, nssv2464999, nssv2465002
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesNSUN5, TRIM50
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970531
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer