A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273337



Internal ID22186669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:180213924..180216274hg38UCSC Ensembl
Outerchr1:180183059..180185409hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3810920
hg1910920
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222273
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273337
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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