A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260429



Internal ID22239914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:30904984..30919979hg38UCSC Ensembl
Outerchr17:29232002..29246997hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3814996
hg1914996
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218539
Supporting Variants
SamplesHG00733
Known GenesTEFM
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260429
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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