A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271137



Internal ID22138769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:175102889..175159993hg38UCSC Ensembl
Outerchr3:174820679..174877783hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg3857105
hg1957105
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198626
Supporting Variants
SamplesHG00513
Known GenesNAALADL2, NAALADL2-AS3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271137
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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