A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18183259



Internal ID20750299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:16763401..16802700hg38UCSC Ensembl
chr17:16666715..16706014hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3839300
hg1939300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6499696
Supporting Variants
Samples
Known GenesCCDC144A, FAM106CP, USP32P1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18183259
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.34285


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