A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3003086



Internal ID16949352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:13700006..13727105hg38UCSC Ensembl
Outerchr1:14026501..14053600hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3827100
hg1927100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv954813
Supporting Variants
SamplesBILGI_BIOE
Known GenesPRDM2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3003086
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer