A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5870176



Internal ID22645111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46955124..46955243hg38UCSC Ensembl
chr2:47182263..47182382hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17393780
Samples
Known GenesTTC7A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5870176
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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