A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258929



Internal ID22193687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:225117437..225156948hg38UCSC Ensembl
Outerchr1:225305139..225344650hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3839512
hg1939512
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195658
Supporting Variants
SamplesHG00731
Known GenesDNAH14
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258929
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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