A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277624



Internal ID22134551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:150167806..150173860hg38UCSC Ensembl
Outerchr6:150488942..150494996hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg383689
hg193689
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218001
Supporting Variants
SamplesHG00513
Known GenesPPP1R14C
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277624
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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