A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003729



Internal ID19092947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:49609950..49908406hg38UCSC Ensembl
Innerchr1:50075622..50374078hg19UCSC Ensembl
Innerchr1:49848209..50146665hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38298457
hg19298457
hg18298457
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv164n100
Supporting Variantsnssv3466554
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)nsv1003729
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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