A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950202



Internal ID16952389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:85514718..85539917hg38UCSC Ensembl
Outerchr1:85980401..86005600hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3825200
hg1925200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997169
SamplesBILGI_BIOE
Known GenesDDAH1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950202
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