A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5976740



Internal ID22751675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32600587..32600587hg38UCSC Ensembl
chr12:32753521..32753521hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17365069
Samples
Known GenesFGD4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5976740
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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