A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952464



Internal ID17301338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:93134325..93141024hg38UCSC Ensembl
Outerchr12:93528101..93534800hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg386700
hg196700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997333
SamplesBILGI_BIOE
Known GenesLOC643339
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952464
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