A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5886788



Internal ID22661777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:177277131..177278391hg38UCSC Ensembl
chr1:177246267..177247527hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg381261
hg191261
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17351155
Samples
Known GenesBRINP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5886788
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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