A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216650



Internal ID22362579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:127558423..127584991hg38UCSC Ensembl
Outerchr7:127198477..127225045hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg3826569
hg1926569
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278124, nssv14278123, nssv14278125
SamplesHG00512, NA19238, HG00731
Known GenesGCC1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216650
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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