A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17474394



Internal ID22532288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4538695..4540165hg38UCSC Ensembl
chr17:4441990..4443460hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg381471
hg191471
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5876721
Supporting Variants
Samples
Known GenesMYBBP1A, SPNS2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17474394
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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