A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227605



Internal ID22370049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3696359..3731629hg38UCSC Ensembl
Outerchr19:3696357..3731627hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3835271
hg1935271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261959
SamplesNA19238
Known GenesPIP5K1C, TJP3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227605
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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