A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012482



Internal ID19101699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227024323..227084049hg38UCSC Ensembl
Innerchr1:227212024..227271750hg19UCSC Ensembl
Innerchr1:225278647..225338373hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3859727
hg1959727
hg1859727
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv581n100
Supporting Variantsnssv3496366
Samples
Known GenesCDC42BPA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012482
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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