A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5616



Internal ID15203757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:1811197..1853240hg38UCSC Ensembl
Outerchr7:1850833..1892876hg19UCSC Ensembl
Outerchr7:1817359..1859402hg18UCSC Ensembl
Outerchr7:1624074..1666117hg17UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3842044
hg1942044
hg1842044
hg1742044
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3499
SamplesNA12878
Known GenesMAD1L1, MIR4655
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)nsv5616
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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