A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987109



Internal ID18871360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:46398162..46602717hg38UCSC Ensembl
Outerchr10:46946900..47151600hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38204556
hg19204701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132337
Supporting Variants
SamplesKWS1
Known GenesGPRIN2, HNRNPA1P33, LINC00842, LOC100996758, NPY4R, SYT15
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987109
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer