A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3003108



Internal ID16949374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:15698506..15753805hg38UCSC Ensembl
Outerchr1:16025001..16080300hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3855300
hg1955300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv954825
Supporting Variants
SamplesBILGI_BIOE
Known GenesPLEKHM2, SLC25A34, TMEM82
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3003108
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