A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3038



Internal ID15540937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:163342093..163376123hg38UCSC Ensembl
Outerchr2:164198603..164232633hg19UCSC Ensembl
Outerchr2:163906849..163940879hg18UCSC Ensembl
Outerchr2:164024110..164058140hg17UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg385989
hg195989
hg185989
hg175989
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3012
Supporting Variants
SamplesNA18555
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)nssv3038
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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