A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4148



Internal ID15192189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:40936351..40969374hg38UCSC Ensembl
Outerchr15:41228549..41261572hg19UCSC Ensembl
Outerchr15:39015841..39048864hg18UCSC Ensembl
Outerchr15:39015841..39048864hg17UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg386693
hg196693
hg186693
hg176693
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1504
Supporting Variants
SamplesNA12878
Known GenesCHAC1, DLL4
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)nssv4148
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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