A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003305



Internal ID19092524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:49449248..49533582hg38UCSC Ensembl
Innerchr1:49914920..49999254hg19UCSC Ensembl
Innerchr1:49687507..49771841hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3884335
hg1984335
hg1884335
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv163n100
Supporting Variantsnssv3477293, nssv3477978, nssv3471192, nssv3470748, nssv3464211
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)nsv1003305
Frequency
Sample Size11257
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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