A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198310



Internal ID22348053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:69590993..71036875hg38UCSC Ensembl
Outerchr5:68886820..70332702hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381445883
hg191445883
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7374n152
Supporting Variantsnssv14273304, nssv14273305, nssv14273303
SamplesNA19239, HG00732, HG00733
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP3, GUSBP9, LOC100272216, LOC441081, NAIP, SERF1A, SERF1B, SMA4, SMA5, SMN1, SMN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198310
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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