A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993396



Internal ID18887709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:130248621..131398849hg38UCSC Ensembl
Outerchr2:131006194..132156422hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg381150229
hg191150229
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141889
Supporting Variants
SamplesKWS2
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
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993396
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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