A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17480345



Internal ID22538248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:10444004..10445203hg38UCSC Ensembl
chr17:10347321..10348520hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5868248
Supporting Variants
Samples
Known GenesMYH4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17480345
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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