A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv847



Internal ID15206182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:99065597..99100208hg38UCSC Ensembl
Outerchr12:99459375..99493986hg19UCSC Ensembl
Outerchr12:97983506..98018117hg18UCSC Ensembl
Outerchr12:97961843..97996454hg17UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg386372
hg196372
hg186372
hg176372
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1109
SamplesNA19240
Known GenesANKS1B
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)nsv847
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