A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6530



Internal ID15190648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:101140617..101165097hg38UCSC Ensembl
Outerchr12:101534395..101558875hg19UCSC Ensembl
Outerchr12:100058526..100083006hg18UCSC Ensembl
Outerchr12:100036863..100061343hg17UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3812284
hg1912284
hg1812284
hg1712284
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv857
Supporting Variants
SamplesNA12156
Known GenesSLC5A8
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)nssv6530
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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