A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999676



Internal ID16945942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:8452905..8473004hg38UCSC Ensembl
Outerchr12:8605501..8625600hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3820100
hg1920100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952797
Supporting Variants
SamplesBILGI_BIOE
Known GenesCLEC6A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999676
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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