A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001714



Internal ID17294666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:42046161..42061760hg38UCSC Ensembl
Outerchr2:42273301..42288900hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3815600
hg1915600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953772
Supporting Variants
SamplesBILGI_BIOE
Known GenesPKDCC
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001714
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