A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525884



Internal ID15453177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:6723938..6726885hg38UCSC Ensembl
Innerchr12:6833104..6836051hg19UCSC Ensembl
Innerchr12:6703365..6706312hg18UCSC Ensembl
Innerchr12:6703365..6706312hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg382948
hg192948
hg182948
hg172948
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv702085
Samples
Known GenesCOPS7A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525884
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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