A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14399587



Internal ID22308159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:72043662..72043662hg38UCSC Ensembl
chr6:72753365..72753365hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3535802
Supporting Variants
SamplesNA19240
Known GenesRIMS1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14399587
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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