A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001383



Internal ID16947649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:48993668..49001867hg38UCSC Ensembl
Outerchr3:49031101..49039300hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg388200
hg198200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv954487
Supporting Variants
SamplesBILGI_BIOE
Known GenesP4HTM
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001383
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