A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5852761



Internal ID22627696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:131238190..131239528hg38UCSC Ensembl
chr7:130922949..130924287hg19UCSC Ensembl
Cytoband7q32.3
Allele length
AssemblyAllele length
hg381339
hg191339
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17501261
Samples
Known GenesMKLN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5852761
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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