A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210965



Internal ID22358679
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 StatusM
Merged Variants
Supporting Variantsnssv14438107, nssv14466100, nssv14386685
SamplesNA19240, HG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210965
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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