A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7816



Internal ID15189362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:172354423..172365446hg38UCSC Ensembl
Outerchr1:172323563..172334586hg19UCSC Ensembl
Outerchr1:170590186..170601209hg18UCSC Ensembl
Outerchr1:169055220..169066243hg17UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg3811024
hg1911024
hg1811024
hg1711024
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3543
Supporting Variants
SamplesNA12156
Known GenesDNM3
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)nssv7816
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