A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222332



Internal ID22366438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:20147665..20243488hg38UCSC Ensembl
Outerchr7:20187288..20283111hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg3895824
hg1995824
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277769
SamplesHG00732
Known GenesMACC1, MACC1-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222332
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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