A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978875



Internal ID18880619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:38123891..38123977hg38UCSC Ensembl
Outerchr21:39495985..39496071hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1140163
Supporting Variants
SamplesKWS2
Known GenesDSCR8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978875
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