A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001638



Internal ID16947904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:244053699..244056798hg38UCSC Ensembl
Outerchr1:244217001..244220100hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg383100
hg193100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv954009
Supporting Variants
SamplesBILGI_BIOE
Known GenesZBTB18
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001638
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