A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000637



Internal ID19089854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:49438952..49533582hg38UCSC Ensembl
Innerchr1:49904624..49999254hg19UCSC Ensembl
Innerchr1:49677211..49771841hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3894631
hg1994631
hg1894631
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv163n100
Supporting Variantsnssv3480717
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)nsv1000637
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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