A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2544



Internal ID15547107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:116424904..116456386hg38UCSC Ensembl
Outerchr1:116967526..116999008hg19UCSC Ensembl
Outerchr1:116769049..116800531hg18UCSC Ensembl
Outerchr1:116679568..116711050hg17UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg385357
hg195357
hg185357
hg175357
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7471, nssv9577
SamplesNA18507, NA12156
Known Genes
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)nsv2544
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