A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5608864



Internal ID21557169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237545052..237545052hg38UCSC Ensembl
chr2:238453695..238453695hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17111944
SamplesNA19239
Known GenesMLPH
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5608864
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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