A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5921166



Internal ID22696389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66822569..66826752hg38UCSC Ensembl
chr7:66287556..66291739hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg384184
hg194184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17439819
Samples
Known GenesGTF2IRD1P1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5921166
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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