A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv646



Internal ID15204685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:24894903..24909909hg38UCSC Ensembl
Outerchr12:25047837..25062843hg19UCSC Ensembl
Outerchr12:24939104..24954110hg18UCSC Ensembl
Outerchr12:24939104..24954110hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg387102
hg197102
hg187102
hg177102
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2879
SamplesNA18555
Known GenesBCAT1
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)nsv646
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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