A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2325



Internal ID15546888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:58895137..58929379hg38UCSC Ensembl
Outerchr18:56562369..56596611hg19UCSC Ensembl
Outerchr18:54713349..54747591hg18UCSC Ensembl
Outerchr18:54713349..54747591hg17UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg385506
hg195506
hg185506
hg175506
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4328
SamplesNA12878
Known GenesZNF532
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)nsv2325
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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