A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594848



Internal ID16035571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:91268439..91332775hg38UCSC Ensembl
Innerchr4:92189590..92253926hg19UCSC Ensembl
Innerchr4:92408613..92472949hg18UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3864337
hg1964337
hg1864337
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9163n54
Supporting Variantsnssv1003109, nssv1003110
Samples
Known GenesCCSER1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594848
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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