A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216596



Internal ID22362542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:226948852..226966118hg38UCSC Ensembl
Outerchr1:227136553..227153819hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38713
hg19713
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273382, nssv14273383
SamplesHG00731, HG00732
Known GenesADCK3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216596
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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