A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978774



Internal ID18890227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:22881707..22881764hg38UCSC Ensembl
Outerchr1:23208200..23208257hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1116592
Supporting Variants
SamplesKWS2
Known GenesEPHB2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978774
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