A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5475



Internal ID15550288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:130559024..130603705hg38UCSC Ensembl
Outerchr6:130880169..130924850hg19UCSC Ensembl
Outerchr6:130921862..130966543hg18UCSC Ensembl
Outerchr6:130921862..130966543hg17UCSC Ensembl
Cytoband6q23.1
Allele length
AssemblyAllele length
hg3844682
hg1944682
hg1844682
hg1744682
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8297
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)nsv5475
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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