A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524127



Internal ID15451420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:69628916..69629638hg38UCSC Ensembl
Innerchr12:70022696..70023418hg19UCSC Ensembl
Innerchr12:68308963..68309685hg18UCSC Ensembl
Innerchr12:68308963..68309685hg17UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38723
hg19723
hg18723
hg17723
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv700005
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv524127
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