A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14432739



Internal ID22175611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:6570445..6579098hg38UCSC Ensembl
chr21:44598017..44606670hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg388654
hg198654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212749
Supporting Variants
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14432739
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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