A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14435913



Internal ID22179024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:138718207..138718297hg38UCSC Ensembl
chr7:138402952..138403042hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3172272
Supporting Variants
SamplesHG00514
Known GenesATP6V0A4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14435913
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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