A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14440726



Internal ID22237213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180859067..180859118hg38UCSC Ensembl
chr1:180828203..180828254hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170804
Supporting Variants
SamplesHG00733
Known GenesXPR1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14440726
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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