A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1068321



Internal ID18974465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:29675386..32738658hg38UCSC Ensembl
chr7:29715002..32778270hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg383063273
hg193063269
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3773039
SamplesKWP1
Known GenesADCYAP1R1, AQP1, AVL9, CCDC129, CRHR2, DKFZP586I1420, DPY19L1P1, DPY19L2P3, FAM188B, FKBP14, GARS, GGCT, GHRHR, INMT, INMT-FAM188B, LOC100130673, LOC100506516, LOC401320, LOC646762, LSM5, MIR550A1, MIR550A2, MIR550A3, MIR550B1, MIR550B2, MTURN, NEUROD6, NOD1, PDE1C, PLEKHA8, PPP1R17, SCRN1, WIPF3, ZNRF2, ZNRF2P1, ZNRF2P2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1068321
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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