A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5578762



Internal ID21527234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227654802..227655305hg38UCSC Ensembl
chr1:227842503..227843006hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38504
hg19504
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17062890
SamplesHG00864
Known GenesZNF678
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5578762
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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