A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18179546



Internal ID20746586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:6527065..7138209hg38UCSC Ensembl
chr17:6430385..7041528hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38611145
hg19611144
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6504534
Supporting Variants
Samples
Known GenesALOX12, ALOX12P2, ALOX15P1, ASGR2, BCL6B, C17orf100, C17orf49, CLEC10A, FBXO39, KIAA0753, LOC100506713, MED31, MIR195, MIR4520A, MIR4520B, MIR497, MIR497HG, PITPNM3, RNASEK, RNASEK-C17orf49, SLC13A5, SLC16A11, SLC16A13, TEKT1, TXNDC17, XAF1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18179546
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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