A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200349



Internal ID22349814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:172112300..172149579hg38UCSC Ensembl
Outerchr2:172977028..173014307hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3837280
hg1937280
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264352, nssv14264353, nssv14264354, nssv14264351, nssv14264355
SamplesHG00512, NA19238, NA19239, NA19240, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200349
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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