A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18195509



Internal ID20762549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1183801..1278700hg38UCSC Ensembl
chr17:1087095..1181994hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3894900
hg1994900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6511937
Supporting Variants
Samples
Known GenesABR, BHLHA9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18195509
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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