A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522972



Internal ID15103579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:49802611..50017048hg38UCSC Ensembl
Innerchr12:50196394..50410831hg19UCSC Ensembl
Innerchr12:48482661..48697098hg18UCSC Ensembl
Innerchr12:48482661..48697098hg17UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38214438
hg19214438
hg18214438
hg17214438
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698642
Samples
Known GenesAQP2, AQP5, AQP6, BCDIN3D, BCDIN3D-AS1, FAIM2, LOC283332, NCKAP5L, RACGAP1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522972
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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