A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242642



Internal ID22375337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:182124896..182124957hg38UCSC Ensembl
chr4:183046049..183046110hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6991n152
Supporting Variantsnssv14434311
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsDeletion variant involving MER satellite DNA
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242642
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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