A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2202



Internal ID15546765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:10608251..10642114hg38UCSC Ensembl
Outerchr18:10608248..10642111hg19UCSC Ensembl
Outerchr18:10598248..10632111hg18UCSC Ensembl
Outerchr18:10598248..10632111hg17UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg386162
hg196162
hg186162
hg176162
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2978
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)nsv2202
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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