A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203897



Internal ID22352839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:69590993..69681924hg38UCSC Ensembl
Outerchr5:68886820..68977751hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3890932
hg1990932
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273672
SamplesHG00731
Known GenesGTF2H2C, GTF2H2D, GUSBP3, LOC100272216
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203897
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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