A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2251



Internal ID15546814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:34565001..34574688hg38UCSC Ensembl
Outerchr18:32144965..32154652hg19UCSC Ensembl
Outerchr18:30398963..30408650hg18UCSC Ensembl
Outerchr18:30398963..30408650hg17UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg389706
hg199706
hg189706
hg179706
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5694
SamplesNA19129
Known GenesDTNA
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)nsv2251
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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