A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7498



Internal ID15536366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:54936363..54970432hg38UCSC Ensembl
Outerchr2:55163500..55197568hg19UCSC Ensembl
Outerchr2:55017004..55051072hg18UCSC Ensembl
Outerchr2:55075151..55109219hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg385372
hg195372
hg185372
hg175372
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2735
Supporting Variants
SamplesNA12156
Known GenesEML6
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)nssv7498
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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