A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976378



Internal ID18893461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:257749..282349hg38UCSC Ensembl
Outerchr1:227500..252100hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3824601
hg1924601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115326
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976378
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