A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014279



Internal ID19103500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:49343719..49399068hg38UCSC Ensembl
Innerchr1:49809391..49864740hg19UCSC Ensembl
Innerchr1:49581978..49637327hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3855350
hg1955350
hg1855350
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv162n100
Supporting Variantsnssv3476707
Samples
Known GenesAGBL4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014279
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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