A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261271



Internal ID22133460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:57957705..57978247hg38UCSC Ensembl
Outerchr17:56035066..56055608hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38591
hg19591
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245351
Supporting Variants
SamplesHG00513
Known GenesVEZF1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261271
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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