A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277652



Internal ID22259906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:157512523..157553647hg38UCSC Ensembl
Outerchr6:157933555..157974679hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg386283
hg196283
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221996
Supporting Variants
SamplesNA19238
Known GenesMIR3692, ZDHHC14
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277652
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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