A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14400979



Internal ID22297020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:108025417..108025417hg38UCSC Ensembl
chr7:107665862..107665862hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3540280
Supporting Variants
SamplesNA19240
Known GenesLAMB4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14400979
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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