A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261002



Internal ID22256762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:5020297..5093900hg38UCSC Ensembl
Outerchr17:4923592..4997195hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg382824
hg192824
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3238783
Supporting Variants
SamplesNA19238
Known GenesKIF1C, SLC52A1, ZFP3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261002
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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