A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2603



Internal ID15547166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:9735401..9742523hg38UCSC Ensembl
Outerchr2:9875530..9882652hg19UCSC Ensembl
Outerchr2:9792981..9800103hg18UCSC Ensembl
Outerchr2:9826128..9833250hg17UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3810030
hg1910030
hg1810030
hg1710030
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6815
SamplesNA12156
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)nsv2603
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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