A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273383



Internal ID22198099
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216596
Supporting Variants
SamplesHG00732
Known GenesADCK3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273383
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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