A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14434311



Internal ID22151957
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 StatusS
Merged Variantsnsv3242642
Supporting Variants
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)nssv14434311
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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