A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275997



Internal ID22198559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:152702157..152717538hg38UCSC Ensembl
Outerchr6:153023292..153038673hg19UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg3815382
hg1915382
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207123
Supporting Variants
SamplesHG00732
Known GenesMYCT1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275997
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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