A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204620



Internal ID22353440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173457742..173470526hg38UCSC Ensembl
chr5:172884745..172897529hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3812785
hg1912785
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7621n152
Supporting Variantsnssv14460042
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204620
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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