A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417



Internal ID15550224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:103848147..103892521hg38UCSC Ensembl
Outerchr6:104296022..104340396hg19UCSC Ensembl
Outerchr6:104402715..104447089hg18UCSC Ensembl
Outerchr6:104402715..104447089hg17UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg3844375
hg1944375
hg1844375
hg1744375
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2607
SamplesNA18555
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)nsv5417
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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