A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5962005



Internal ID22736945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:36899684..36899684hg38UCSC Ensembl
chr7:36939289..36939289hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg38225
hg19225
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17447238
Samples
Known GenesELMO1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5962005
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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