A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4435064



Internal ID21397066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:105749107..105750630hg38UCSC Ensembl
chr7:105389553..105391076hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg381524
hg191524
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15752351, nssv15753458
SamplesNB12, NB10
Known GenesATXN7L1
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4435064
Frequency
Sample Size15
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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