A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8992



Internal ID15188186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:4636246..4670472hg38UCSC Ensembl
Outerchr12:4745412..4779638hg19UCSC Ensembl
Outerchr12:4615673..4649899hg18UCSC Ensembl
Outerchr12:4615673..4649899hg17UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg385214
hg195214
hg185214
hg175214
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587
Supporting Variants
SamplesNA12156
Known GenesAKAP3, NDUFA9
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)nssv8992
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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