A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3003120



Internal ID16949386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:218418678..218435977hg38UCSC Ensembl
Outerchr2:219283401..219300700hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3817300
hg1917300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv954837
Supporting Variants
SamplesBILGI_BIOE
Known GenesVIL1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3003120
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