A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv625381



Internal ID15848914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:182138292..182138482hg38UCSC Ensembl
Outerchr1:182107427..182107617hg19UCSC Ensembl
Outerchr1:180374050..180374240hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381014
hg191014
hg181014
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv512752
Supporting Variants
Samples1
Known Genes
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv625381
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer