A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215914



Internal ID22362082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:69956892..69969051hg38UCSC Ensembl
Outerchr1:70422575..70434734hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg382144
hg192144
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261949, nssv14261948
SamplesNA19238, HG00513
Known GenesLRRC7
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215914
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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