A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253324



Internal ID22272717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:35037459..35062489hg38UCSC Ensembl
Outerchr1:35503060..35528090hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3825031
hg1925031
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206037
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253324
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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