A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6445830



Internal ID21103383
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 StatusM
Merged Variants
Supporting Variantsnssv18227753
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)nsv6445830
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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