A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970939



Internal ID22745874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39724272..39724272hg38UCSC Ensembl
chr17:37880525..37880525hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17373639
Samples
Known GenesERBB2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970939
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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