A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7179



Internal ID15552162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:103651056..103669959hg38UCSC Ensembl
Outerchr1:104193678..104212581hg19UCSC Ensembl
Outerchr1:103995201..104014104hg18UCSC Ensembl
Outerchr1:103905699..103924602hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg3818904
hg1918904
hg1818904
hg1718904
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10162
SamplesNA18956
Known GenesAMY1A, AMY1B, AMY1C
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)nsv7179
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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