A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520994



Internal ID15101601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:124927460..124961890hg38UCSC Ensembl
Innerchr12:125412006..125446436hg19UCSC Ensembl
Innerchr12:123977959..124012389hg18UCSC Ensembl
Innerchr12:123936886..123971316hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3834431
hg1934431
hg1834431
hg1734431
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv684095, nssv679465, nssv701344
Samples
Known GenesDHX37
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520994
Frequency
Sample Size2026
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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