A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5972214



Internal ID22747149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:34730224..34730224hg38UCSC Ensembl
chr17:33057243..33057243hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17370247
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5972214
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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