A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14400247



Internal ID22319769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44992613..44992613hg38UCSC Ensembl
chr7:45032212..45032212hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38203
hg19203
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3534724
Supporting Variants
SamplesNA19240
Known Genes
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)nssv14400247
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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