A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225719



Internal ID22368765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:38710023..38724878hg38UCSC Ensembl
Outerchr2:38937165..38952020hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg381988
hg191988
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266082, nssv14266086, nssv14266081, nssv14266084, nssv14266087, nssv14266088, nssv14266085, nssv14266083, nssv14266080
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesGALM
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225719
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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