A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5567375



Internal ID21515710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:207098959..207099056hg38UCSC Ensembl
chr1:207272304..207272401hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17062778
SamplesHG03371
Known GenesC4BPB
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5567375
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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