A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5977



Internal ID15543389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:103148188..103181158hg38UCSC Ensembl
Outerchr3:102867032..102900002hg19UCSC Ensembl
Outerchr3:104349722..104382692hg18UCSC Ensembl
Outerchr3:104349722..104382692hg17UCSC Ensembl
Cytoband3q12.3
Allele length
AssemblyAllele length
hg386310
hg196310
hg186310
hg176310
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3927
Supporting Variants
SamplesNA19129
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)nssv5977
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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