A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3001647



Internal ID17294599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:247111699..247129898hg38UCSC Ensembl
Outerchr1:247275001..247293200hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3818200
hg1918200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv954060
Supporting Variants
SamplesBILGI_BIOE
Known GenesC1orf229, ZNF124
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3001647
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