A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277599



Internal ID22262817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:174740065..174758004hg38UCSC Ensembl
Outerchr5:174167068..174185007hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg385719
hg195719
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226811
Supporting Variants
SamplesNA19238
Known GenesMIR4634
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277599
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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