A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3248



Internal ID15537976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:33465259..33478812hg38UCSC Ensembl
Outerchr4:33466881..33480434hg19UCSC Ensembl
Outerchr4:33143276..33156829hg18UCSC Ensembl
Outerchr4:33289447..33303000hg17UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3810932
hg1910932
hg1810932
hg1710932
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4292
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)nssv3248
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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