A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954858



Internal ID16957045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:52211685..52237484hg38UCSC Ensembl
Outerchr3:52245701..52271500hg19UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg3825800
hg1925800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001388
SamplesBILGI_BIOE
Known GenesALAS1, TLR9, TWF2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954858
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