A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5921128



Internal ID22696351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146933002..147112020hg38UCSC Ensembl
chr7:146630094..146809112hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38179019
hg19179019
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17438981
Samples
Known GenesCNTNAP2, MIR548AQ, MIR548AR
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5921128
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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