A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014423



Internal ID19103642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227013552..227081142hg38UCSC Ensembl
Innerchr1:227201253..227268843hg19UCSC Ensembl
Innerchr1:225267876..225335466hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3867591
hg1967591
hg1867591
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv581n100
Supporting Variantsnssv3497649
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)nsv1014423
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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