A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5919412



Internal ID22694634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74659858..74663285hg38UCSC Ensembl
chr7:74074188..74077617hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg383428
hg193430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17441656
Samples
Known GenesGTF2I
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5919412
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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