A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1074



Internal ID15198131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:31642332..31676288hg38UCSC Ensembl
Outerchr12:31795266..31829222hg19UCSC Ensembl
Outerchr12:31686533..31720489hg18UCSC Ensembl
Outerchr12:31686533..31720489hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg387039
hg197039
hg187039
hg177039
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv662
Supporting Variants
SamplesNA19240
Known GenesAMN1, METTL20
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)nssv1074
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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