A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6379848



Internal ID21037401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:118193140..118653403hg38UCSC Ensembl
chr4:119114295..119574558hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38460264
hg19460264
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18211350
Samples
Known GenesCEP170P1, LOC729218, NDST3, PRSS12, SNHG8, SNORA24
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6379848
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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