A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210740



Internal ID22358546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:989560..1026299hg38UCSC Ensembl
Outerchr7:1029196..1065935hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38424
hg19424
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14277860
SamplesNA19238
Known GenesC7orf50, CYP2W1, MIR339
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210740
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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