A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18232121



Internal ID20799161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:126485301..128649400hg38UCSC Ensembl
chr9:129247580..131411679hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg382164100
hg192164100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6438803
Supporting Variants
Samples
Known GenesAK1, ANGPTL2, C9orf117, C9orf16, CDK9, CERCAM, CIZ1, COQ4, DNM1, DPM2, ENG, FAM102A, FAM129B, FPGS, GARNL3, GLE1, GOLGA2, LCN2, LMX1B, LOC100289019, LRSAM1, MIR199B, MIR219-2, MIR2861, MIR2964A, MIR3154, MIR3911, MIR3960, MIR4672, MVB12B, NAIF1, ODF2, PIP5KL1, PTGES2, PTGES2-AS1, PTRH1, RALGPS1, RPL12, SH2D3C, SLC25A25, SLC27A4, SLC2A8, SNORA65, SPTAN1, ST6GALNAC4, ST6GALNAC6, STXBP1, SWI5, TOR2A, TRUB2, TTC16, URM1, WDR34, ZBTB34, ZBTB43, ZNF79
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18232121
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00018


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer