A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3054



Internal ID15200939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:155684044..155703718hg38UCSC Ensembl
Outerchr1:155653835..155673509hg19UCSC Ensembl
Outerchr1:153920459..153940133hg18UCSC Ensembl
Outerchr1:152466908..152486582hg17UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg3819675
hg1919675
hg1819675
hg1719675
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4721, nssv1601
SamplesNA19240, NA19129
Known GenesDAP3, YY1AP1
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv3054
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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