A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6147290



Internal ID346472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14486258..14492310hg38UCSC Ensembl
chr12:14639192..14645244hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg386053
hg196053
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17054220
Samples
Known GenesATF7IP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6147290
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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