A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5575749



Internal ID21524180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:234899096..234899145hg38UCSC Ensembl
chr2:235807740..235807789hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17112000
SamplesHG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5575749
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer