A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273749



Internal ID22135239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:168166185..168209997hg38UCSC Ensembl
Outerchr4:169087336..169131148hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg3843813
hg1943813
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192800
Supporting Variants
SamplesHG00513
Known GenesANXA10
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273749
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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