A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17005151



Internal ID71060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:128288300..128299895hg38UCSC Ensembl
chr7:127928353..127939948hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg3811596
hg1911596
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6147053
Supporting Variants
Samples
Known GenesMGC27345
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17005151
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002185


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer