A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5636944



Internal ID21585249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:107771958..107771958hg38UCSC Ensembl
chr7:107412403..107412403hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38350
hg19350
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17155800
SamplesHG02492
Known GenesSLC26A3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5636944
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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