A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18194760



Internal ID20761800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43844289..44031089hg38UCSC Ensembl
chr17:41921657..42108457hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38186801
hg19186801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6507361
Supporting Variants
Samples
Known GenesCD300LG, FAM215A, MPP2, NAGS, PPY, PYY, TMEM101
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18194760
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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