A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5570002



Internal ID21518365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:107795459..107797899hg38UCSC Ensembl
chr7:107435904..107438344hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg382441
hg192441
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17154174
SamplesHG02011
Known GenesSLC26A3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5570002
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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