A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1553



Internal ID15198838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:174584599..174616112hg38UCSC Ensembl
Outerchr2:175449327..175480840hg19UCSC Ensembl
Outerchr2:175157573..175189086hg18UCSC Ensembl
Outerchr2:175274834..175306347hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg389476
hg199476
hg189476
hg179476
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3042
Supporting Variants
SamplesNA19240
Known GenesWIPF1
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)nssv1553
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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