A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557687



Internal ID330778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:29267476..29267527hg38UCSC Ensembl
chr17:27594494..27594545hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712416
Samples
Known GenesNUFIP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557687
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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