A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003968



Internal ID18746499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:49743730..50081138hg38UCSC Ensembl
Innerchr1:50209402..50546810hg19UCSC Ensembl
Innerchr1:49981989..50319397hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38337409
hg19337409
hg18337409
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3467144
Samples
Known GenesAGBL4, ELAVL4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003968
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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