A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14397575



Internal ID22290587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1393822..1393822hg38UCSC Ensembl
chr4:1387610..1387610hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381312
hg191312
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3535671
Supporting Variants
SamplesNA19240
Known GenesCRIPAK
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14397575
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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