A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999680



Internal ID16945946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:9748205..9759104hg38UCSC Ensembl
Outerchr12:9900801..9911700hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3810900
hg1910900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952801
Supporting Variants
SamplesBILGI_BIOE
Known GenesCD69
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999680
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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