A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977115



Internal ID18887947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:46376840..46384941hg38UCSC Ensembl
Outerchr10:47748100..47756200hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg388102
hg198101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139527
Supporting Variants
SamplesKWS2
Known GenesANXA8L1, ANXA8L2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977115
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