A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14411389



Internal ID22291881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:7300550..7301096hg38UCSC Ensembl
chr5:7300663..7301209hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38547
hg19547
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197773
Supporting Variants
SamplesNA19240
Known GenesLOC442132
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14411389
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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