A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274977



Internal ID22216583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:54048136..54107702hg38UCSC Ensembl
Outerchr6:53912934..53972500hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3859567
hg1959567
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204680
Supporting Variants
SamplesHG00733
Known GenesMLIP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274977
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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