A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258399



Internal ID22192367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:215897335..215940104hg38UCSC Ensembl
Outerchr1:216070677..216113446hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3842770
hg1942770
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194136
Supporting Variants
SamplesHG00731
Known GenesUSH2A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258399
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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