A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978961



Internal ID18900719
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 StatusS
Merged Variantsnsv1140248
Supporting Variants
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)nssv3978961
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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