A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261994



Internal ID22284362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:81207206..81265592hg38UCSC Ensembl
Outerchr17:79181006..79239392hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg383440
hg193440
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235463
Supporting Variants
SamplesNA19239
Known GenesAZI1, C17orf89, ENTHD2, SLC38A10
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261994
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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