A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17153784



Internal ID21450172
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 StatusS
Merged Variantsnsv5632450
Supporting Variants
SamplesHG01114
Known GenesMYLK4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17153784
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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