A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9249



Internal ID15187929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:66551612..66567520hg38UCSC Ensembl
Outerchr1:67017295..67033203hg19UCSC Ensembl
Outerchr1:66789883..66805791hg18UCSC Ensembl
Outerchr1:66729316..66745224hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3815909
hg1915909
hg1815909
hg1715909
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1210
Supporting Variants
SamplesNA12156
Known GenesSGIP1
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)nssv9249
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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