A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv224



Internal ID15383704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:125682087..125704180hg38UCSC Ensembl
Outerchr2:126439664..126461757hg19UCSC Ensembl
Outerchr2:126156134..126178227hg18UCSC Ensembl
Outerchr2:126155894..126177987hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3822094
hg1922094
hg1822094
hg1722094
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv224
SamplesNA15510
Known Genes
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)nsv224
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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