A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14375606



Internal ID22311545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7642950..7643211hg38UCSC Ensembl
chr1:7703010..7703271hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeOTHER complex substitution
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3188372
Supporting Variants
SamplesNA19240
Known GenesCAMTA1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14375606
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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