A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3023



Internal ID15200905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:168859032..168882855hg38UCSC Ensembl
Outerchr2:169715542..169739365hg19UCSC Ensembl
Outerchr2:169423788..169447611hg18UCSC Ensembl
Outerchr2:169541049..169564872hg17UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3816489
hg1916489
hg1816489
hg1716489
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv11024, nssv1549, nssv10254, nssv6884, nssv2303
SamplesNA12156, NA18956, NA15510, NA18555, NA19240
Known GenesNOSTRIN, SPC25
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)nsv3023
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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