A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3960579



Internal ID18867577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:49877817..49880517hg38UCSC Ensembl
Outerchr12:50271600..50274300hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg382701
hg192701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1128666
Supporting Variants
SamplesKWS1
Known GenesFAIM2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3960579
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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