A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008622



Internal ID19097839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:49449248..49530110hg38UCSC Ensembl
Innerchr1:49914920..49995782hg19UCSC Ensembl
Innerchr1:49687507..49768369hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3880863
hg1980863
hg1880863
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv163n100
Supporting Variantsnssv3480331, nssv3478657, nssv3463417, nssv3467935, nssv3478835, nssv3473368
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)nsv1008622
Frequency
Sample Size11257
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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