A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5977636



Internal ID22752571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:33218662..33218662hg38UCSC Ensembl
chr19:33709568..33709568hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401981
Samples
Known GenesSLC7A10
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5977636
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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