A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17438929



Internal ID22496799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:5000857..5000920hg38UCSC Ensembl
chr6:5001091..5001154hg19UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5892238
Supporting Variants
Samples
Known GenesRPP40
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17438929
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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