A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204797



Internal ID22353591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:76475249..76563072hg38UCSC Ensembl
Outerchr2:76702375..76790198hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3887824
hg1987824
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264679, nssv14265301, nssv14264678
SamplesHG00732, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204797
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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