A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998835



Internal ID16945101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:3729501..3739700hg38UCSC Ensembl
Outerchr18:3729501..3739700hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3810200
hg1910200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952402
Supporting Variants
SamplesBILGI_BIOE
Known GenesDLGAP1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998835
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