A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2607



Internal ID15547170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:11241215..11269806hg38UCSC Ensembl
Outerchr2:11381341..11409932hg19UCSC Ensembl
Outerchr2:11298792..11327383hg18UCSC Ensembl
Outerchr2:11331939..11360530hg17UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3828592
hg1928592
hg1828592
hg1728592
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5775
SamplesNA19129
Known GenesROCK2
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)nsv2607
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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