A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3205024



Internal ID22353784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:166705908..166768673hg38UCSC Ensembl
Outerchr4:167627059..167689824hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg3862766
hg1962766
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273743, nssv14273746, nssv14273747, nssv14273744, nssv14273748, nssv14273742, nssv14273741, nssv14273745
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSPOCK3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3205024
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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