A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148830



Internal ID18852522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:29675350..32738701hg38UCSC Ensembl
Outerchr7:29714966..32778313hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg383063352
hg193063348
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997619
SamplesKWB1
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
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148830
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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