A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192971



Internal ID22343480
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264258, nssv14264256, nssv14264257
SamplesNA19238, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192971
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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