A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4748624



Internal ID20524651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117201953..117202265hg38UCSC Ensembl
chr7:116842007..116842319hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16295694
Samples
Known GenesST7, ST7-OT3
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4748624
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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