A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17477145



Internal ID22535046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:12651435..12654764hg38UCSC Ensembl
chr18:12651434..12654763hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg383330
hg193330
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5879588
Supporting Variants
Samples
Known GenesSPIRE1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17477145
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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