A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2312



Internal ID15540754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:209901552..209926357hg38UCSC Ensembl
Outerchr2:210766276..210791081hg19UCSC Ensembl
Outerchr2:210474521..210499326hg18UCSC Ensembl
Outerchr2:210591782..210616587hg17UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3815222
hg1915222
hg1815222
hg1715222
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3145
Supporting Variants
SamplesNA18555
Known GenesUNC80
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)nssv2312
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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