A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14255230



Internal ID22276158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1077353..1100583hg38UCSC Ensembl
Outerchr12:1186519..1209749hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3823231
hg1923231
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215536
Supporting Variants
SamplesNA19239
Known GenesERC1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14255230
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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