A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6147034



Internal ID346240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154671633..154678813hg38UCSC Ensembl
chr1:154644109..154651289hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg387181
hg197181
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890396
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6147034
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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