A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012324



Internal ID19101542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:113592511..113664221hg38UCSC Ensembl
Innerchr1:114135133..114206843hg19UCSC Ensembl
Innerchr1:113936656..114008366hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3871711
hg1971711
hg1871711
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3702057
Samples
Known GenesMAGI3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012324
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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