A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2329



Internal ID15546892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:60316628..60330457hg38UCSC Ensembl
Outerchr18:57983861..57997690hg19UCSC Ensembl
Outerchr18:56134841..56148670hg18UCSC Ensembl
Outerchr18:56134841..56148670hg17UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg3816125
hg1916125
hg1816125
hg1716125
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9550
SamplesNA18507
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)nsv2329
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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