A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2001



Internal ID15541284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:79486576..79514320hg38UCSC Ensembl
Outerchr12:79880356..79908100hg19UCSC Ensembl
Outerchr12:78404487..78432231hg18UCSC Ensembl
Outerchr12:78382824..78410568hg17UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg389714
hg199714
hg189714
hg179714
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv785
Supporting Variants
SamplesNA18555
Known Genes
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)nssv2001
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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