A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14456918



Internal ID22251054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:139321703..139321703hg38UCSC Ensembl
chr7:139006449..139006449hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3818919
hg1918919
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3539201
Supporting Variants
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14456918
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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