A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14464927



Internal ID22217290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:27388822..27388919hg38UCSC Ensembl
chr3:27430313..27430410hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238155
Supporting Variants
SamplesHG00733
Known GenesSLC4A7
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)nssv14464927
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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