A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970150



Internal ID22745085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:10495760..10495760hg38UCSC Ensembl
chr17:10399077..10399077hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38210
hg19210
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17388388
Samples
Known GenesMYH1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970150
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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