A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6510043



Internal ID20883357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1101927..1355321hg38UCSC Ensembl
chr17:1005167..1258615hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38253395
hg19253449
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18182863
Samples
Known GenesABR, BHLHA9, TUSC5, YWHAE
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6510043
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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