A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2283



Internal ID15193748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:98803754..98827429hg38UCSC Ensembl
Outerchr2:99420217..99443892hg19UCSC Ensembl
Outerchr2:98786649..98810324hg18UCSC Ensembl
Outerchr2:98878735..98902410hg17UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3810692
hg1910692
hg1810692
hg1710692
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2842
Supporting Variants
SamplesNA18555
Known GenesKIAA1211L
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)nssv2283
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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