A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977989



Internal ID19233346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:53753775..53753838hg38UCSC Ensembl
Outerchr12:54147559..54147622hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1125184
Supporting Variants
SamplesKWS2
Known GenesCISTR-ACT
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977989
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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