A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218659



Internal ID22363935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:154940192..154940252hg38UCSC Ensembl
chr7:154731902..154731962hg19UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14458692, nssv14338074, nssv14437699, nssv14338073, nssv14338075, nssv14338076, nssv14338077
SamplesHG00512, HG00731, HG00732, HG00733, HG00514
Known GenesPAXIP1-AS2
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218659
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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