A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17406671



Internal ID22464541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:148335009..148396725hg38UCSC Ensembl
chr2:149092578..149154294hg19UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg3861717
hg1961717
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5898485
Supporting Variants
Samples
Known GenesMBD5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17406671
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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