A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4744695



Internal ID20520696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7852401..7852453hg38UCSC Ensembl
chr17:7755719..7755771hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16287943
Samples
Known GenesKDM6B
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4744695
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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