A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14440176



Internal ID22236747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:245103402..245103490hg38UCSC Ensembl
chr1:245266704..245266792hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3183761
Supporting Variants
SamplesHG00733
Known GenesEFCAB2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14440176
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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