A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261738



Internal ID22184624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:38911010..38959631hg38UCSC Ensembl
Outerchr1:39376682..39425303hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg382062
hg192062
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218334
Supporting Variants
SamplesHG00731
Known GenesRHBDL2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261738
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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