A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192698



Internal ID22343245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6937434..6937616hg38UCSC Ensembl
chr1:6997494..6997676hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv86n152
Supporting Variantsnssv14438210, nssv14392117, nssv14439558
SamplesNA19240, HG00733, HG00514
Known GenesCAMTA1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192698
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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