A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4461



Internal ID15549173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:109401813..109435744hg38UCSC Ensembl
Outerchr4:110322969..110356900hg19UCSC Ensembl
Outerchr4:110542418..110576349hg18UCSC Ensembl
Outerchr4:110680573..110714504hg17UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg385507
hg195507
hg185507
hg175507
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7987
SamplesNA12156
Known GenesSEC24B, SEC24B-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)nsv4461
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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