A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv529



Internal ID15544674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:19762104..19779472hg38UCSC Ensembl
Outerchr6:19762335..19779703hg19UCSC Ensembl
Outerchr6:19870314..19887682hg18UCSC Ensembl
Outerchr6:19870314..19887682hg17UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3817369
hg1917369
hg1817369
hg1717369
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5219
Supporting Variants
SamplesNA19240
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)nssv529
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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