A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4058



Internal ID15538785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:130636623..130668062hg38UCSC Ensembl
Outerchr12:131121168..131152607hg19UCSC Ensembl
Outerchr12:129687121..129718560hg18UCSC Ensembl
Outerchr12:129646048..129677487hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg385560
hg195560
hg185560
hg175560
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv938
Supporting Variants
SamplesNA12878
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)nssv4058
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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