A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198535



Internal ID22348243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6771551..6774650hg38UCSC Ensembl
chr5:6771664..6774763hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg383100
hg193100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7177n152
Supporting Variantsnssv14436778, nssv14411387, nssv14461287
SamplesNA19240, HG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198535
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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