A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954447



Internal ID16956634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:188290974..188293073hg38UCSC Ensembl
Outerchr2:189155701..189157800hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg382100
hg192100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3003093
SamplesBILGI_BIOE
Known GenesGULP1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954447
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