A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701679



Internal ID15438331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:70879806..70890184hg38UCSC Ensembl
Innerchr6:71589509..71599887hg19UCSC Ensembl
Innerchr6:71646230..71656608hg18UCSC Ensembl
Innerchr6:71646230..71656608hg17UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3810379
hg1910379
hg1810379
hg1710379
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525542
Supporting Variants
Samples
Known GenesB3GAT2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701679
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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