A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5608647



Internal ID21556952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:236381261..236381261hg38UCSC Ensembl
chr2:237289904..237289904hg19UCSC Ensembl
Cytoband2q37.2
Allele length
AssemblyAllele length
hg38217
hg19217
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17111535
SamplesHG00171
Known GenesIQCA1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5608647
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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