A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999663



Internal ID17292615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:767335..814534hg38UCSC Ensembl
Outerchr12:876501..923700hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3847200
hg1947200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952782
Supporting Variants
SamplesBILGI_BIOE
Known GenesWNK1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999663
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer