A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18227753



Internal ID20794793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:127317501..128138900hg38UCSC Ensembl
chr9:130079780..130901179hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38821400
hg19821400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6445830
Supporting Variants
Samples
Known GenesAK1, C9orf117, CDK9, DPM2, ENG, FAM102A, FAM129B, FPGS, GARNL3, LOC100289019, LRSAM1, MIR2861, MIR3911, MIR3960, MIR4672, NAIF1, PIP5KL1, PTGES2, PTGES2-AS1, PTRH1, RPL12, SH2D3C, SLC25A25, SLC2A8, SNORA65, ST6GALNAC4, ST6GALNAC6, STXBP1, TOR2A, TTC16, ZNF79
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18227753
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00021


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