A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5880003



Internal ID22654973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74483901..74484193hg38UCSC Ensembl
chr2:74711028..74711320hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17400830
Samples
Known GenesTTC31
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5880003
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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