A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978776



Internal ID19234187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:43629361..43629427hg38UCSC Ensembl
Outerchr1:44095032..44095098hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1116595
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978776
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