A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14439558



Internal ID22231838
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 StatusS
Merged Variantsnsv3192698
Supporting Variants
SamplesHG00733
Known GenesCAMTA1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14439558
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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