A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5304



Internal ID15203414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:52924131..52945880hg38UCSC Ensembl
Outerchr6:52788929..52810678hg19UCSC Ensembl
Outerchr6:52896888..52918637hg18UCSC Ensembl
Outerchr6:52896888..52918637hg17UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3821750
hg1921750
hg1821750
hg1721750
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4915
SamplesNA19129
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)nsv5304
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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