A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1149522



Internal ID18852069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:108529513..112348583hg38UCSC Ensembl
Outerchr2:109145969..113106160hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg383819071
hg193960192
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4000822
SamplesKWB1
Known GenesACOXL, ANAPC1, BCL2L11, BUB1, CCDC138, EDAR, FBLN7, LIMS1, LIMS3, LIMS3L, LIMS3-LOC440895, LINC00116, LINC01106, LINC01123, LOC100288570, LOC100507334, LOC440895, MALL, MERTK, MIR4265, MIR4266, MIR4267, MIR4435-1, MIR4435-1HG, MIR4435-2, MIR4436B1, MIR4436B2, NPHP1, RANBP2, RGPD5, RGPD6, SEPT10, SH3RF3, SH3RF3-AS1, SOWAHC, TMEM87B, ZC3H6, ZC3H8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1149522
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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