A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14465168



Internal ID22227995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:45626798..45627013hg38UCSC Ensembl
chr7:45666397..45666612hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg38216
hg19216
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3173911
Supporting Variants
SamplesHG00733
Known GenesADCY1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14465168
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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