A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129332



Internal ID18906999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:130023832..131372368hg38UCSC Ensembl
Outerchr2:130781405..132129941hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg381348537
hg191348537
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2032n106
Supporting Variantsnssv3962765
SamplesKWS1
Known GenesAMER3, ARHGEF4, CCDC115, CCDC74B, CFC1, CFC1B, CYP4F30P, CYP4F62P, FAM168B, FAR2P1, FAR2P2, GPR148, IMP4, LOC440910, LOC646743, MED15P9, MZT2B, PLEKHB2, POTEE, POTEF, POTEI, POTEJ, PTPN18, SMPD4, TISP43, TUBA3E, WTH3DI
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129332
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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