A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4452



Internal ID15539179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:120858698..120893783hg38UCSC Ensembl
Outerchr2:121616273..121651359hg19UCSC Ensembl
Outerchr2:121332743..121367829hg18UCSC Ensembl
Outerchr2:121332503..121367589hg17UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg384663
hg194663
hg184663
hg174663
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2897
Supporting Variants
SamplesNA12878
Known GenesGLI2
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)nssv4452
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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