A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv244



Internal ID15383438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:151662908..151688138hg38UCSC Ensembl
Outerchr3:151380696..151405926hg19UCSC Ensembl
Outerchr3:152863386..152888616hg18UCSC Ensembl
Outerchr3:152863394..152888624hg17UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg389646
hg199646
hg189646
hg179646
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv244
Supporting Variants
SamplesNA15510
Known GenesMIR548H2
MethodSequencing
AnalysisFosmids were categorized as discordant if the in silico size was in excess of three standard deviations from the mean (<32 or 48> kb) and/or showed incorrect orientation of ends
PlatformCapillary
Comments
ReferenceTuzun_et_al_2005
Pubmed ID15895083
Accession Number(s)nssv244
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