A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5641794



Internal ID21590099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43217113..43217113hg38UCSC Ensembl
chr7:43256712..43256712hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg382130
hg192130
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17148887
SamplesHG03125
Known GenesHECW1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5641794
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