A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987702



Internal ID19206628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44971076..44971142hg38UCSC Ensembl
Outerchr21:46390991..46391057hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132908
Supporting Variants
SamplesKWS1
Known GenesFAM207A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987702
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