A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208167



Internal ID22356451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237539918..237550519hg38UCSC Ensembl
chr2:238448561..238459162hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3810602
hg1910602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14406619
SamplesNA19240
Known GenesMLPH
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208167
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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