A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2830



Internal ID15541734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:11060892..11094347hg38UCSC Ensembl
Outerchr10:11102855..11136310hg19UCSC Ensembl
Outerchr10:11142861..11176316hg18UCSC Ensembl
Outerchr10:11142861..11176316hg17UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg386564
hg196564
hg186564
hg176564
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5798
Supporting Variants
SamplesNA18555
Known GenesCELF2, CELF2-AS2
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)nssv2830
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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