A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999042



Internal ID17291994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:25050254..25071453hg38UCSC Ensembl
Outerchr15:25295401..25316600hg19UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3821200
hg1921200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952575
Supporting Variants
SamplesBILGI_BIOE
Known GenesSNORD116-1, SNORD116-2, SNORD116-3, SNORD116-4, SNORD116-5, SNORD116-6, SNORD116-7, SNORD116-8, SNORD116-9
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999042
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