A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237914



Internal ID22374002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220444808..220444858hg38UCSC Ensembl
chr1:220618150..220618200hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14462504, nssv14433336
SamplesHG00733, HG00514
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)nsv3237914
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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