A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3530294



Internal ID22399680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:32531415..32531415hg38UCSC Ensembl
chr7:32571027..32571027hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14334648, nssv14334641, nssv14334645, nssv14334646, nssv14334642, nssv14334647, nssv14334643, nssv14334644, nssv14462118, nssv14334640
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesAVL9
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
CommentsSee descriptions for individual calls in download files
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3530294
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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