A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4747537



Internal ID20523556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75483986..75525425hg38UCSC Ensembl
chr7:75113263..75154754hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3841440
hg1941492
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16274432
Samples
Known GenesPMS2P3, POM121C, SPDYE5
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4747537
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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