A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1085714



Internal ID15938900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:70786665..71103368hg38UCSC Ensembl
Innerchr7:70251651..70568354hg19UCSC Ensembl
Innerchr7:69889587..70206290hg18UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38316704
hg19316704
hg18316704
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv607437
Supporting Variants
Samples
Known GenesAUTS2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1085714
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