A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5919201



Internal ID22694423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147166275..147175353hg38UCSC Ensembl
chr7:146863367..146872445hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg389079
hg199079
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17435861
Samples
Known GenesCNTNAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5919201
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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