A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953519



Internal ID17302393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:173964273..173964772hg38UCSC Ensembl
Outerchr2:174829001..174829500hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3003072
SamplesBILGI_BIOE
Known GenesSP3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953519
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