A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv970539



Internal ID18259075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75922663..75924137hg38UCSC Ensembl
Innerchr7:75551981..75553455hg19UCSC Ensembl
Innerchr7:75389917..75391391hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381475
hg191475
hg181475
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2466156, nssv2466513, nssv2466158, nssv2466155, nssv2466514, nssv2466511, nssv2466509, nssv2466510, nssv2466512, nssv2466157
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesPOR
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv970539
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