A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17430667



Internal ID22488537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:12329676..12398988hg38UCSC Ensembl
chr7:12369302..12438614hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3869313
hg1969313
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5918873
Supporting Variants
Samples
Known GenesVWDE
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17430667
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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