A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279596



Internal ID22287506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:3959025..3979293hg38UCSC Ensembl
Outerchr7:3998657..4018925hg19UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg382423
hg192423
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218643
Supporting Variants
SamplesNA19240
Known GenesSDK1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279596
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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