A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263968



Internal ID22120408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1016742..1058044hg38UCSC Ensembl
Outerchr19:1016741..1058043hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381292
hg191292
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3250239
Supporting Variants
SamplesHG00512
Known GenesABCA7, CNN2, TMEM259
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263968
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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