A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14401275



Internal ID22303127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:886113..886113hg38UCSC Ensembl
chr7:925750..925750hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3812286
hg1912286
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3534699
Supporting Variants
SamplesNA19240
Known GenesGET4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14401275
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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