A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264257



Internal ID22145929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:127156101..127174530hg38UCSC Ensembl
Outerchr2:127913677..127932106hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3818430
hg1918430
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192971
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264257
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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