A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3172272



Internal ID22331725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:138718207..138718297hg38UCSC Ensembl
chr7:138402952..138403042hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14435913
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)nsv3172272
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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