A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17712566



Internal ID136232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31312227..31312270hg38UCSC Ensembl
chr17:29639245..29639288hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5544481
Supporting Variants
Samples
Known GenesEVI2B, NF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17712566
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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