A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6147181



Internal ID346363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:173321778..173327848hg38UCSC Ensembl
chr1:173290917..173296987hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg386071
hg196071
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891676
Samples
Known GenesLOC100506023
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6147181
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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