A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5636963



Internal ID21585268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:49774658..49774658hg38UCSC Ensembl
chr7:49814254..49814254hg19UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg38940
hg19940
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17141710
SamplesHG00733
Known GenesVWC2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5636963
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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