A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261500



Internal ID22256488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:79001065..79013260hg38UCSC Ensembl
Outerchr17:76997147..77009342hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3812196
hg1912196
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225471
Supporting Variants
SamplesNA19238
Known GenesCANT1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261500
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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