A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253642



Internal ID22285110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:61660292..61771283hg38UCSC Ensembl
Outerchr1:62125964..62236955hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38110992
hg19110992
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201247
Supporting Variants
SamplesNA19239
Known GenesINADL, TM2D1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253642
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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