A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5632450



Internal ID21580755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:2718003..2718003hg38UCSC Ensembl
chr6:2718237..2718237hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38443
hg19443
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17153784
SamplesHG01114
Known GenesMYLK4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5632450
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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