A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193875



Internal ID22344266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:102946118..102970159hg38UCSC Ensembl
chr4:103867275..103891316hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg3824042
hg1924042
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6777n152
Supporting Variantsnssv14434803
SamplesHG00514
Known GenesSLC9B1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193875
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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