A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999684



Internal ID16945950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11650867..11656766hg38UCSC Ensembl
Outerchr12:11803801..11809700hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg385900
hg195900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951328
Supporting Variants
SamplesBILGI_BIOE
Known GenesETV6
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999684
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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