A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5631004



Internal ID21579309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:139905073..139905073hg38UCSC Ensembl
chr7:139604872..139604872hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17157047
SamplesHG02011
Known GenesTBXAS1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5631004
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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