A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953530



Internal ID17302404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:35033337..35049636hg38UCSC Ensembl
Outerchr18:32613301..32629600hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3816300
hg1916300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998865
SamplesBILGI_BIOE
Known GenesMAPRE2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953530
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