A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6316981



Internal ID20850063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47744637..47760735hg38UCSC Ensembl
chr1:48210309..48226407hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3816099
hg1916099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201400
Samples
Known GenesTRABD2B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6316981
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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