A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516330



Internal ID15096937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:40349207..40352808hg38UCSC Ensembl
Innerchr2:40576347..40579948hg19UCSC Ensembl
Innerchr2:40429851..40433452hg18UCSC Ensembl
Innerchr2:40487998..40491599hg17UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg383602
hg193602
hg183602
hg173602
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv691505, nssv672551, nssv667622
Samples
Known GenesSLC8A1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516330
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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