A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17142864



Internal ID21450365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:2718708..2718708hg38UCSC Ensembl
chr6:2718942..2718942hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5644293
Supporting Variants
SamplesHG01114
Known GenesMYLK4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17142864
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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