A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3539798



Internal ID22408954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237529538..237529538hg38UCSC Ensembl
chr2:238438181..238438181hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg386334
hg196334
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14422365
SamplesHG00514
Known GenesMLPH
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3539798
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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