A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8280



Internal ID15535584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:103646141..103691209hg38UCSC Ensembl
Outerchr6:104094016..104139084hg19UCSC Ensembl
Outerchr6:104200709..104245777hg18UCSC Ensembl
Outerchr6:104200709..104245777hg17UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg3845069
hg1945069
hg1845069
hg1745069
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5416
Supporting Variants
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)nssv8280
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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