A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261949



Internal ID22264217
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215914
Supporting Variants
SamplesNA19238
Known GenesLRRC7
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261949
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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