A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5916411



Internal ID22691630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148164318..148165820hg38UCSC Ensembl
chr7:147861410..147862912hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381503
hg191503
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17447670
Samples
Known GenesCNTNAP2, MIR548T
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5916411
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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