A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5905605



Internal ID22680794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127013676..127019833hg38UCSC Ensembl
chr2:127771252..127777409hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg386158
hg196158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17407481
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5905605
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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