A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513757



Internal ID15506492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:6375553..6388070hg38UCSC Ensembl
Outerchr19:6375564..6388081hg19UCSC Ensembl
Outerchr19:6326564..6339081hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3812518
hg1912518
hg1812518
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv627009
Samples1
Known GenesGTF2F1, PSPN
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513757
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