A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5580657



Internal ID21529150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130079869..130079928hg38UCSC Ensembl
chr7:129719709..129719768hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17139852
SamplesHG00732
Known GenesKLHDC10
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5580657
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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