A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202370



Internal ID22351547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:181232725..181255471hg38UCSC Ensembl
Outerchr5:180659725..180682471hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3822747
hg1922747
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273270, nssv14273269
SamplesNA19238, NA19240
Known GenesGNB2L1, SNORD95, SNORD96A, TRIM41
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202370
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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