A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10263



Internal ID15542535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:206875028..206906551hg38UCSC Ensembl
Outerchr2:207739752..207771275hg19UCSC Ensembl
Outerchr2:207447997..207479520hg18UCSC Ensembl
Outerchr2:207565258..207596781hg17UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg387967
hg197967
hg187967
hg177967
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3128
Supporting Variants
SamplesNA18956
Known Genes
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)nssv10263
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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