A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998004



Internal ID16944270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:68334244..68344643hg38UCSC Ensembl
Outerchr10:70094001..70104400hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg3810400
hg1910400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950972
Supporting Variants
SamplesBILGI_BIOE
Known GenesHNRNPH3, RUFY2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998004
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