A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3538157



Internal ID22407346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:38221822..38221822hg38UCSC Ensembl
chr7:38261423..38261423hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg381349
hg191349
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14427432
SamplesHG00514
Known GenesSTARD3NL
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3538157
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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