A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4747776



Internal ID20523797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1508719..1508778hg38UCSC Ensembl
chr17:1412013..1412072hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16292556
Samples
Known GenesINPP5K
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4747776
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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