A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197280



Internal ID22347182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:69590993..71269589hg38UCSC Ensembl
Outerchr5:68886820..70565416hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381678597
hg191678597
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7374n152
Supporting Variantsnssv14273353, nssv14273354
SamplesNA19240, HG00733
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP3, GUSBP9, LOC100272216, LOC441081, LOC647859, 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)nsv3197280
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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