A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200715



Internal ID22350125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:105517421..105592349hg38UCSC Ensembl
Outerchr3:105236265..105311193hg19UCSC Ensembl
Cytoband3q13.11
Allele length
AssemblyAllele length
hg3874929
hg1974929
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270197, nssv14270198
SamplesNA19238, NA19240
Known GenesALCAM
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200715
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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