A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18273449



Internal ID20840489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:29684558..32729318hg38UCSC Ensembl
chr7:29724174..32768930hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg383044761
hg193044757
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6556278
Supporting Variants
Samples
Known GenesADCYAP1R1, AQP1, AVL9, CCDC129, CRHR2, DKFZP586I1420, DPY19L1P1, DPY19L2P3, FAM188B, FKBP14, GARS, GGCT, GHRHR, INMT, INMT-FAM188B, LOC100130673, LOC100506516, LOC401320, LOC646762, LSM5, MIR550A1, MIR550B1, MTURN, NEUROD6, NOD1, PDE1C, PLEKHA8, PPP1R17, SCRN1, WIPF3, ZNRF2, ZNRF2P1, ZNRF2P2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18273449
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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