A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1055



Internal ID15198289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:4486893..4520366hg38UCSC Ensembl
Outerchr12:4596059..4629532hg19UCSC Ensembl
Outerchr12:4466320..4499793hg18UCSC Ensembl
Outerchr12:4466320..4499793hg17UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg387520
hg197520
hg187520
hg177520
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv586
Supporting Variants
SamplesNA19240
Known GenesC12orf4
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)nssv1055
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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