A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18182276



Internal ID20749316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:4619075..5268953hg38UCSC Ensembl
chr11:4640305..5290183hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38649879
hg19649879
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6450577
Supporting Variants
Samples
Known GenesHBB, HBBP1, HBD, HBE1, HBG1, HBG2, MMP26, OR51A2, OR51A4, OR51A7, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51G2, OR51L1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52E2, OR52J3, OR52R1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18182276
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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