A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950329



Internal ID16952516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1112713..1114112hg38UCSC Ensembl
Outerchr4:1106501..1107900hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381400
hg191400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996618
SamplesBILGI_BIOE
Known GenesRNF212
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950329
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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