A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527939



Internal ID15455232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:102182382..102529662hg38UCSC Ensembl
Innerchr1:102647938..102995218hg19UCSC Ensembl
Innerchr1:102420526..102767806hg18UCSC Ensembl
Innerchr1:102359959..102707239hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38347281
hg19347281
hg18347281
hg17347281
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv13n21
Supporting Variantsnssv704447
Samples
Known GenesMIR548AI
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527939
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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