A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14466100



Internal ID22218375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:37190569..37194968hg38UCSC Ensembl
chr8:37048087..37052486hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg384400
hg194400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210965
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14466100
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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