A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998640



Internal ID19158176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:49788283..49934358hg38UCSC Ensembl
Innerchr1:50253955..50400030hg19UCSC Ensembl
Innerchr1:50026542..50172617hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38146076
hg19146076
hg18146076
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3479266
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)nsv998640
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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