A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6569n152



Internal ID22822272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:44274472..44372487hg38UCSC Ensembl
chr4:44276489..44374504hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg3898016
hg1998016
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3200101, nsv3193383
SamplesHG00512
Known GenesKCTD8
MethodOptical mapping
Sequencing
AnalysisBioNano Genomics proprietary analysis
Multiple analysis algorthms
PlatformBioNano Genomics
Illumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv6569n152
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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