A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8988



Internal ID15188190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:3436934..3471028hg38UCSC Ensembl
Outerchr12:3546100..3580194hg19UCSC Ensembl
Outerchr12:3416361..3450455hg18UCSC Ensembl
Outerchr12:3416361..3450455hg17UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg385344
hg195344
hg185344
hg175344
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv580
Supporting Variants
SamplesNA12156
Known GenesPRMT8
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)nssv8988
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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