A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv651926



Internal ID15041892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:18466680..18470700hg38UCSC Ensembl
Innerchr10:18755609..18759629hg19UCSC Ensembl
Innerchr10:18795615..18799635hg18UCSC Ensembl
Innerchr10:18795615..18799635hg17UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg384021
hg194021
hg184021
hg174021
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517404
Supporting Variants
Samples
Known GenesCACNB2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv651926
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