A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2973



Internal ID15200850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:151489990..151551006hg38UCSC Ensembl
Outerchr2:152346504..152407520hg19UCSC Ensembl
Outerchr2:152054750..152115766hg18UCSC Ensembl
Outerchr2:152172012..152233028hg17UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg386854
hg196854
hg186854
hg176854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2297, nssv10243
SamplesNA18956, NA18555
Known GenesNEB
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)nsv2973
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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