A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272776



Internal ID22253193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:180248476..180256418hg38UCSC Ensembl
Outerchr1:180217611..180225553hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg387943
hg197943
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201213
Supporting Variants
SamplesNA19238
Known GenesLHX4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272776
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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