A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3300



Internal ID15538028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:166444655..166471931hg38UCSC Ensembl
Outerchr4:167365807..167393083hg19UCSC Ensembl
Outerchr4:167585257..167612533hg18UCSC Ensembl
Outerchr4:167723412..167750688hg17UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg3812474
hg1912474
hg1812474
hg1712474
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4592
Supporting Variants
SamplesNA12878
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)nssv3300
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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