A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1140248



Internal ID18925483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:21583126..22699476hg38UCSC Ensembl
Outerchr16:21594447..22710797hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg381116351
hg191116351
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978961
SamplesKWS2
Known GenesC16orf52, CDR2, EEF2K, IGSF6, LOC653786, METTL9, NPIPB5, OTOA, PDZD9, POLR3E, RRN3P1, RRN3P3, SMG1P1, UQCRC2, VWA3A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1140248
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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