A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7182n152



Internal ID22822885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:7300642..7300727hg38UCSC Ensembl
chr5:7300755..7300840hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3282555, nsv3281295
SamplesNA19240, HG00733
Known GenesLOC442132
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv7182n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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