A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213499



Internal ID22360427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:74116061..74147554hg38UCSC Ensembl
Outerchr7:73530391..73561884hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3831494
hg1931494
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278744, nssv14278746, nssv14278740, nssv14278743, nssv14278742, nssv14278741, nssv14278745
SamplesHG00512, NA19239, HG00731, NA19240, HG00733, HG00513, HG00514
Known GenesLIMK1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213499
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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