A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227925



Internal ID22370268
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261354
SamplesHG00513
Known GenesPPM1D
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227925
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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