A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18234201



Internal ID20801241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:127558301..127695800hg38UCSC Ensembl
chr7:127198355..127335854hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38137500
hg19137500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6427258
Supporting Variants
Samples
Known GenesARF5, FSCN3, GCC1, PAX4, SND1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18234201
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00011


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