A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6500689



Internal ID20873917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1247154..1689615hg38UCSC Ensembl
chr17:1150448..1592909hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38442462
hg19442462
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18196598
Samples
Known GenesBHLHA9, CRK, INPP5K, MYO1C, PITPNA, PITPNA-AS1, PRPF8, RILP, SCARF1, SLC43A2, TUSC5, YWHAE
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6500689
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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