A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275629



Internal ID22292829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:125861438..125880386hg38UCSC Ensembl
Outerchr6:126182584..126201532hg19UCSC Ensembl
Cytoband6q22.32
Allele length
AssemblyAllele length
hg3818949
hg1918949
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198944
Supporting Variants
SamplesNA19240
Known GenesNCOA7
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275629
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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