A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5546440



Internal ID320390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:159717646..159717679hg38UCSC Ensembl
chr2:160574157..160574190hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16921362
Samples
Known GenesMARCH7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5546440
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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