A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594043



Internal ID16034766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:39977946..40049444hg38UCSC Ensembl
Innerchr4:39979566..40051064hg19UCSC Ensembl
Innerchr4:39655961..39727459hg18UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3871499
hg1971499
hg1871499
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv995996
Samples
Known GenesLOC344967, PDS5A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594043
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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