A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978686



Internal ID18889528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:56532568..56547652hg38UCSC Ensembl
Outerchr12:56926352..56941436hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3815085
hg1915085
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1116501
Supporting Variants
SamplesKWS2
Known GenesRBMS2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978686
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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