A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496



Internal ID15550311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:138230535..138275458hg38UCSC Ensembl
Outerchr6:138551672..138596595hg19UCSC Ensembl
Outerchr6:138593365..138638288hg18UCSC Ensembl
Outerchr6:138593365..138638288hg17UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg3844924
hg1944924
hg1844924
hg1744924
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8301
SamplesNA12156
Known GenesKIAA1244
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)nsv5496
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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