A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277860



Internal ID22259777
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210740
Supporting Variants
SamplesNA19238
Known GenesC7orf50, CYP2W1, MIR339
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277860
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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