A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14435516



Internal ID22178594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:152786053..152786217hg38UCSC Ensembl
chr4:153707205..153707369hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg38165
hg19165
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3182408
Supporting Variants
SamplesHG00514
Known GenesARFIP1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14435516
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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