A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608069



Internal ID16048792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:105448246..105568045hg38UCSC Ensembl
Innerchr7:105088693..105208492hg19UCSC Ensembl
Innerchr7:104875929..104995728hg18UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg38119800
hg19119800
hg18119800
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1156561
SamplesHGDP00791
Known GenesEFCAB10, PUS7, RINT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608069
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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