A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260790



Internal ID22272289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:62035502..62059474hg38UCSC Ensembl
Outerchr17:60112863..60136835hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3823973
hg1923973
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210910
Supporting Variants
SamplesNA19239
Known GenesMED13
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260790
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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