A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261354



Internal ID22133504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:60564984..60643412hg38UCSC Ensembl
Outerchr17:58642345..58720773hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg3878429
hg1978429
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227925
Supporting Variants
SamplesHG00513
Known GenesPPM1D
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261354
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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