A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978684



Internal ID19241689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:45840193..45840275hg38UCSC Ensembl
Outerchr12:46233976..46234058hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1116500
Supporting Variants
SamplesKWS2
Known GenesARID2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978684
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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