A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14435172



Internal ID22178229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:136127023..136264873hg38UCSC Ensembl
chr4:137048178..137186028hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38137851
hg19137851
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202660
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)nssv14435172
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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