A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1147463



Internal ID18854822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:130250517..131396763hg38UCSC Ensembl
Outerchr2:131008090..132154336hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg381146247
hg191146247
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000235
SamplesKWB1
Known GenesAMER3, ARHGEF4, CCDC115, CFC1, CFC1B, CYP4F30P, CYP4F62P, FAM168B, FAR2P2, GPR148, IMP4, LOC440910, LOC646743, PLEKHB2, POTEE, POTEI, POTEJ, PTPN18, TISP43, WTH3DI
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1147463
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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