A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1988



Internal ID15546551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:97293151..97322991hg38UCSC Ensembl
Outerchr1:97758707..97788547hg19UCSC Ensembl
Outerchr1:97531295..97561135hg18UCSC Ensembl
Outerchr1:97470728..97500568hg17UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg389649
hg199649
hg189649
hg179649
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10150
SamplesNA18956
Known GenesDPYD, DPYD-AS1
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)nsv1988
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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