A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3732



Internal ID15548371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:179584859..179616953hg38UCSC Ensembl
Outerchr1:179553994..179586088hg19UCSC Ensembl
Outerchr1:177820617..177852711hg18UCSC Ensembl
Outerchr1:176285651..176317745hg17UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg386664
hg196664
hg186664
hg176664
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2715, nssv349
SamplesNA18555, NA19240
Known GenesTDRD5
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)nsv3732
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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